Canonical Allele Identifier: CA4293254
Community Standard Title: NM_000501.4(ELN):c.1849G>A (p.Gly617Ser)
Gene: ELN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74063215G>A , CM000669.2:g.74063215G>A GRCh38
NC_000007.13:g.73477545G>A , CM000669.1:g.73477545G>A GRCh37
NC_000007.12:g.73115481G>A NCBI36
NG_009261.1:g.40119G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000501.4:c.1849G>A MANE Select NP_000492.2:p.Gly617Ser
ENST00000252034.12:c.1849G>A MANE Select ENSP00000252034.7:p.Gly617Ser
NM_000501.3:c.1849G>A NP_000492.2:p.Gly617Ser
NM_001081752.2:c.1762G>A NP_001075221.1:p.Gly588Ser
NM_001081752.3:c.1762G>A NP_001075221.1:p.Gly588Ser
NM_001081753.2:c.1807G>A NP_001075222.1:p.Gly603Ser
NM_001081753.3:c.1807G>A NP_001075222.1:p.Gly603Ser
NM_001081754.2:c.1864G>A NP_001075223.1:p.Gly622Ser
NM_001081754.3:c.1864G>A NP_001075223.1:p.Gly622Ser
NM_001081755.2:c.1792G>A NP_001075224.1:p.Gly598Ser
NM_001081755.3:c.1792G>A NP_001075224.1:p.Gly598Ser
NM_001278912.1:c.1849G>A NP_001265841.1:p.Gly617Ser
NM_001278912.2:c.1849G>A NP_001265841.1:p.Gly617Ser
NM_001278913.1:c.1606G>A NP_001265842.1:p.Gly536Ser
NM_001278913.2:c.1606G>A NP_001265842.1:p.Gly536Ser
NM_001278914.1:c.1777G>A NP_001265843.1:p.Gly593Ser
NM_001278914.2:c.1777G>A NP_001265843.1:p.Gly593Ser
NM_001278915.1:c.1867G>A NP_001265844.1:p.Gly623Ser
NM_001278915.2:c.1867G>A NP_001265844.1:p.Gly623Ser
NM_001278916.1:c.1705G>A NP_001265845.1:p.Gly569Ser
NM_001278916.2:c.1705G>A NP_001265845.1:p.Gly569Ser
NM_001278917.1:c.1819G>A NP_001265846.1:p.Gly607Ser
NM_001278917.2:c.1819G>A NP_001265846.1:p.Gly607Ser
NM_001278918.1:c.1582G>A NP_001265847.1:p.Gly528Ser
NM_001278918.2:c.1582G>A NP_001265847.1:p.Gly528Ser
NM_001278939.1:c.2035G>A NP_001265868.1:p.Gly679Ser
NM_001278939.2:c.2035G>A NP_001265868.1:p.Gly679Ser
ENST00000252034.11:c.1849G>A ENSP00000252034.7:p.Gly617Ser
ENST00000320399.10:c.1948G>A ENSP00000313565.6:p.Gly650Ser
ENST00000320492.11:c.1606G>A ENSP00000315607.7:p.Gly536Ser
ENST00000357036.9:c.1864G>A ENSP00000349540.5:p.Gly622Ser
ENST00000358929.8:c.2035G>A ENSP00000351807.5:p.Gly679Ser
ENST00000380553.8:c.1441G>A ENSP00000369926.4:p.Gly481Ser
ENST00000380562.8:c.1867G>A ENSP00000369936.4:p.Gly623Ser
ENST00000380575.8:c.1762G>A ENSP00000369949.4:p.Gly588Ser
ENST00000380576.9:c.1792G>A ENSP00000369950.5:p.Gly598Ser
ENST00000380584.8:c.1705G>A ENSP00000369958.4:p.Gly569Ser
ENST00000414324.5:c.1777G>A ENSP00000392575.1:p.Gly593Ser
ENST00000429192.5:c.1807G>A ENSP00000391129.1:p.Gly603Ser
ENST00000445912.5:c.1849G>A ENSP00000389857.1:p.Gly617Ser
ENST00000458204.5:c.1819G>A ENSP00000403162.1:p.Gly607Ser
ENST00000621115.4:c.1582G>A ENSP00000480955.1:p.Gly528Ser
ENST00000692049.1:c.2035G>A ENSP00000510104.1:p.Gly679Ser
XM_005250187.1:c.1813G>A XP_005250244.1:p.Gly605Ser
XM_005250187.2:c.1813G>A XP_005250244.1:p.Gly605Ser
XM_005250188.1:c.1807G>A XP_005250245.1:p.Gly603Ser
XM_005250188.2:c.1807G>A XP_005250245.1:p.Gly603Ser
XM_011515868.1:c.1864G>A XP_011514170.1:p.Gly622Ser
XM_011515868.2:c.1864G>A XP_011514170.1:p.Gly622Ser
XM_011515869.1:c.1834G>A XP_011514171.1:p.Gly612Ser
XM_011515870.1:c.1828G>A XP_011514172.1:p.Gly610Ser
XM_011515871.1:c.1822G>A XP_011514173.1:p.Gly608Ser
XM_011515871.2:c.1822G>A XP_011514173.1:p.Gly608Ser
XM_011515872.1:c.1810G>A XP_011514174.1:p.Gly604Ser
XM_011515872.2:c.1810G>A XP_011514174.1:p.Gly604Ser
XM_011515873.1:c.1807G>A XP_011514175.1:p.Gly603Ser
XM_011515873.2:c.1807G>A XP_011514175.1:p.Gly603Ser
XM_011515874.1:c.1798G>A XP_011514176.1:p.Gly600Ser
XM_011515875.1:c.1783G>A XP_011514177.1:p.Gly595Ser
XM_011515875.2:c.1783G>A XP_011514177.1:p.Gly595Ser
XM_011515876.1:c.1864G>A XP_011514178.1:p.Gly622Ser
XM_011515876.2:c.1864G>A XP_011514178.1:p.Gly622Ser
XM_011515877.1:c.1753G>A XP_011514179.1:p.Gly585Ser
XM_011515877.2:c.1753G>A XP_011514179.1:p.Gly585Ser
XM_017011813.1:c.1777G>A XP_016867302.1:p.Gly593Ser
XM_017011814.2:c.1765G>A XP_016867303.1:p.Gly589Ser