Canonical Allele Identifier: CA4293147
Community Standard Title: NM_000501.4(ELN):c.1640G>A (p.Gly547Asp)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74060394G>A , CM000669.2:g.74060394G>A GRCh38
NC_000007.13:g.73474724G>A , CM000669.1:g.73474724G>A GRCh37
NC_000007.12:g.73112660G>A NCBI36
NG_009261.1:g.37298G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000501.4:c.1640G>A (ELN) MANE Select NP_000492.2:p.Gly547Asp
ENST00000252034.12:c.1640G>A (ELN) MANE Select ENSP00000252034.7:p.Gly547Asp
NM_000501.3:c.1640G>A (ELN) NP_000492.2:p.Gly547Asp
NM_001081752.2:c.1553G>A (ELN) NP_001075221.1:p.Gly518Asp
NM_001081752.3:c.1553G>A (ELN) NP_001075221.1:p.Gly518Asp
NM_001081753.2:c.1598G>A (ELN) NP_001075222.1:p.Gly533Asp
NM_001081753.3:c.1598G>A (ELN) NP_001075222.1:p.Gly533Asp
NM_001081754.2:c.1655G>A (ELN) NP_001075223.1:p.Gly552Asp
NM_001081754.3:c.1655G>A (ELN) NP_001075223.1:p.Gly552Asp
NM_001081755.2:c.1583G>A (ELN) NP_001075224.1:p.Gly528Asp
NM_001081755.3:c.1583G>A (ELN) NP_001075224.1:p.Gly528Asp
NM_001278912.1:c.1640G>A (ELN) NP_001265841.1:p.Gly547Asp
NM_001278912.2:c.1640G>A (ELN) NP_001265841.1:p.Gly547Asp
NM_001278913.1:c.1397G>A (ELN) NP_001265842.1:p.Gly466Asp
NM_001278913.2:c.1397G>A (ELN) NP_001265842.1:p.Gly466Asp
NM_001278914.1:c.1568G>A (ELN) NP_001265843.1:p.Gly523Asp
NM_001278914.2:c.1568G>A (ELN) NP_001265843.1:p.Gly523Asp
NM_001278915.1:c.1658G>A (ELN) NP_001265844.1:p.Gly553Asp
NM_001278915.2:c.1658G>A (ELN) NP_001265844.1:p.Gly553Asp
NM_001278916.1:c.1496G>A (ELN) NP_001265845.1:p.Gly499Asp
NM_001278916.2:c.1496G>A (ELN) NP_001265845.1:p.Gly499Asp
NM_001278917.1:c.1610G>A (ELN) NP_001265846.1:p.Gly537Asp
NM_001278917.2:c.1610G>A (ELN) NP_001265846.1:p.Gly537Asp
NM_001278918.1:c.1373G>A (ELN) NP_001265847.1:p.Gly458Asp
NM_001278918.2:c.1373G>A (ELN) NP_001265847.1:p.Gly458Asp
NM_001278939.1:c.1727G>A (ELN) NP_001265868.1:p.Gly576Asp
NM_001278939.2:c.1727G>A (ELN) NP_001265868.1:p.Gly576Asp
ENST00000252034.11:c.1640G>A (ELN) ENSP00000252034.7:p.Gly547Asp
ENST00000320399.10:c.1640G>A (ELN) ENSP00000313565.6:p.Gly547Asp
ENST00000320492.11:c.1397G>A (ELN) ENSP00000315607.7:p.Gly466Asp
ENST00000357036.9:c.1655G>A (ELN) ENSP00000349540.5:p.Gly552Asp
ENST00000358929.8:c.1727G>A (ELN) ENSP00000351807.5:p.Gly576Asp
ENST00000380553.8:c.1232G>A (ELN) ENSP00000369926.4:p.Gly411Asp
ENST00000380562.8:c.1658G>A (ELN) ENSP00000369936.4:p.Gly553Asp
ENST00000380575.8:c.1553G>A (ELN) ENSP00000369949.4:p.Gly518Asp
ENST00000380576.9:c.1583G>A (ELN) ENSP00000369950.5:p.Gly528Asp
ENST00000380584.8:c.1496G>A (ELN) ENSP00000369958.4:p.Gly499Asp
ENST00000414324.5:c.1568G>A (ELN) ENSP00000392575.1:p.Gly523Asp
ENST00000429192.5:c.1598G>A (ELN) ENSP00000391129.1:p.Gly533Asp
ENST00000445912.5:c.1640G>A (ELN) ENSP00000389857.1:p.Gly547Asp
ENST00000458204.5:c.1610G>A (ELN) ENSP00000403162.1:p.Gly537Asp
ENST00000621115.4:c.1373G>A (ELN) ENSP00000480955.1:p.Gly458Asp
ENST00000692049.1:c.1727G>A (ELN) ENSP00000510104.1:p.Gly576Asp
XM_005250187.1:c.1604G>A (ELN) XP_005250244.1:p.Gly535Asp
XM_005250187.2:c.1604G>A (ELN) XP_005250244.1:p.Gly535Asp
XM_005250188.1:c.1598G>A (ELN) XP_005250245.1:p.Gly533Asp
XM_005250188.2:c.1598G>A (ELN) XP_005250245.1:p.Gly533Asp
XM_011515868.1:c.1655G>A (ELN) XP_011514170.1:p.Gly552Asp
XM_011515868.2:c.1655G>A (ELN) XP_011514170.1:p.Gly552Asp
XM_011515869.1:c.1625G>A (ELN) XP_011514171.1:p.Gly542Asp
XM_011515870.1:c.1619G>A (ELN) XP_011514172.1:p.Gly540Asp
XM_011515871.1:c.1613G>A (ELN) XP_011514173.1:p.Gly538Asp
XM_011515871.2:c.1613G>A (ELN) XP_011514173.1:p.Gly538Asp
XM_011515872.1:c.1601G>A (ELN) XP_011514174.1:p.Gly534Asp
XM_011515872.2:c.1601G>A (ELN) XP_011514174.1:p.Gly534Asp
XM_011515873.1:c.1598G>A (ELN) XP_011514175.1:p.Gly533Asp
XM_011515873.2:c.1598G>A (ELN) XP_011514175.1:p.Gly533Asp
XM_011515874.1:c.1589G>A (ELN) XP_011514176.1:p.Gly530Asp
XM_011515875.1:c.1574G>A (ELN) XP_011514177.1:p.Gly525Asp
XM_011515875.2:c.1574G>A (ELN) XP_011514177.1:p.Gly525Asp
XM_011515876.1:c.1655G>A (ELN) XP_011514178.1:p.Gly552Asp
XM_011515876.2:c.1655G>A (ELN) XP_011514178.1:p.Gly552Asp
XM_011515877.1:c.1544G>A (ELN) XP_011514179.1:p.Gly515Asp
XM_011515877.2:c.1544G>A (ELN) XP_011514179.1:p.Gly515Asp
XM_017011813.1:c.1568G>A (ELN) XP_016867302.1:p.Gly523Asp
XM_017011814.2:c.1556G>A (ELN) XP_016867303.1:p.Gly519Asp
XR_001745243.1:n.76-362C>T (ELN-AS1)