Canonical Allele Identifier: CA4293088

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74060007C>T , CM000669.2:g.74060007C>T GRCh38
NC_000007.13:g.73474337C>T , CM000669.1:g.73474337C>T GRCh37
NC_000007.12:g.73112273C>T NCBI36
NG_009261.1:g.36911C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000692049.1:c.1623C>T (ELN) ENSP00000510104.1:p.Gly541=
ENST00000252034.12:c.1536C>T (ELN) MANE Select ENSP00000252034.7:p.Gly512=
ENST00000252034.11:c.1536C>T (ELN) ENSP00000252034.7:p.Gly512=
ENST00000320399.10:c.1536C>T (ELN) ENSP00000313565.6:p.Gly512=
ENST00000320492.11:c.1293C>T (ELN) ENSP00000315607.7:p.Gly431=
ENST00000357036.9:c.1551C>T (ELN) ENSP00000349540.5:p.Gly517=
ENST00000358929.8:c.1623C>T (ELN) ENSP00000351807.5:p.Gly541=
ENST00000380553.8:c.1128C>T (ELN) ENSP00000369926.4:p.Gly376=
ENST00000380562.8:c.1554C>T (ELN) ENSP00000369936.4:p.Gly518=
ENST00000380575.8:c.1449C>T (ELN) ENSP00000369949.4:p.Gly483=
ENST00000380576.9:c.1479C>T (ELN) ENSP00000369950.5:p.Gly493=
ENST00000380584.8:c.1437C>T (ELN) ENSP00000369958.4:p.Gly479=
ENST00000414324.5:c.1464C>T (ELN) ENSP00000392575.1:p.Gly488=
ENST00000429192.5:c.1494C>T (ELN) ENSP00000391129.1:p.Gly498=
ENST00000445912.5:c.1536C>T (ELN) ENSP00000389857.1:p.Gly512=
ENST00000458204.5:c.1506C>T (ELN) ENSP00000403162.1:p.Gly502=
ENST00000621115.4:c.1269C>T (ELN) ENSP00000480955.1:p.Gly423=
NM_000501.3:c.1536C>T (ELN) NP_000492.2:p.Gly512=
NM_001081752.2:c.1449C>T (ELN) NP_001075221.1:p.Gly483=
NM_001081753.2:c.1494C>T (ELN) NP_001075222.1:p.Gly498=
NM_001081754.2:c.1551C>T (ELN) NP_001075223.1:p.Gly517=
NM_001081755.2:c.1479C>T (ELN) NP_001075224.1:p.Gly493=
NM_001278912.1:c.1536C>T (ELN) NP_001265841.1:p.Gly512=
NM_001278913.1:c.1293C>T (ELN) NP_001265842.1:p.Gly431=
NM_001278914.1:c.1464C>T (ELN) NP_001265843.1:p.Gly488=
NM_001278915.1:c.1554C>T (ELN) NP_001265844.1:p.Gly518=
NM_001278916.1:c.1437C>T (ELN) NP_001265845.1:p.Gly479=
NM_001278917.1:c.1506C>T (ELN) NP_001265846.1:p.Gly502=
NM_001278918.1:c.1269C>T (ELN) NP_001265847.1:p.Gly423=
NM_001278939.1:c.1623C>T (ELN) NP_001265868.1:p.Gly541=
XM_005250187.1:c.1500C>T (ELN) XP_005250244.1:p.Gly500=
XM_005250188.1:c.1494C>T (ELN) XP_005250245.1:p.Gly498=
XM_011515868.1:c.1551C>T (ELN) XP_011514170.1:p.Gly517=
XM_011515869.1:c.1521C>T (ELN) XP_011514171.1:p.Gly507=
XM_011515870.1:c.1515C>T (ELN) XP_011514172.1:p.Gly505=
XM_011515871.1:c.1509C>T (ELN) XP_011514173.1:p.Gly503=
XM_011515872.1:c.1497C>T (ELN) XP_011514174.1:p.Gly499=
XM_011515873.1:c.1494C>T (ELN) XP_011514175.1:p.Gly498=
XM_011515874.1:c.1485C>T (ELN) XP_011514176.1:p.Gly495=
XM_011515875.1:c.1470C>T (ELN) XP_011514177.1:p.Gly490=
XM_011515876.1:c.1551C>T (ELN) XP_011514178.1:p.Gly517=
XM_011515877.1:c.1440C>T (ELN) XP_011514179.1:p.Gly480=
XM_005250187.2:c.1500C>T (ELN) XP_005250244.1:p.Gly500=
XM_005250188.2:c.1494C>T (ELN) XP_005250245.1:p.Gly498=
XM_011515868.2:c.1551C>T (ELN) XP_011514170.1:p.Gly517=
XM_011515871.2:c.1509C>T (ELN) XP_011514173.1:p.Gly503=
XM_011515872.2:c.1497C>T (ELN) XP_011514174.1:p.Gly499=
XM_011515873.2:c.1494C>T (ELN) XP_011514175.1:p.Gly498=
XM_011515875.2:c.1470C>T (ELN) XP_011514177.1:p.Gly490=
XM_011515876.2:c.1551C>T (ELN) XP_011514178.1:p.Gly517=
XM_011515877.2:c.1440C>T (ELN) XP_011514179.1:p.Gly480=
XM_017011813.1:c.1464C>T (ELN) XP_016867302.1:p.Gly488=
XM_017011814.2:c.1452C>T (ELN) XP_016867303.1:p.Gly484=
XR_001745243.1:n.101G>A (ELN-AS1)
NM_000501.4:c.1536C>T (ELN) MANE Select NP_000492.2:p.Gly512=
NM_001081752.3:c.1449C>T (ELN) NP_001075221.1:p.Gly483=
NM_001081753.3:c.1494C>T (ELN) NP_001075222.1:p.Gly498=
NM_001081754.3:c.1551C>T (ELN) NP_001075223.1:p.Gly517=
NM_001081755.3:c.1479C>T (ELN) NP_001075224.1:p.Gly493=
NM_001278912.2:c.1536C>T (ELN) NP_001265841.1:p.Gly512=
NM_001278913.2:c.1293C>T (ELN) NP_001265842.1:p.Gly431=
NM_001278914.2:c.1464C>T (ELN) NP_001265843.1:p.Gly488=
NM_001278915.2:c.1554C>T (ELN) NP_001265844.1:p.Gly518=
NM_001278916.2:c.1437C>T (ELN) NP_001265845.1:p.Gly479=
NM_001278917.2:c.1506C>T (ELN) NP_001265846.1:p.Gly502=
NM_001278918.2:c.1269C>T (ELN) NP_001265847.1:p.Gly423=
NM_001278939.2:c.1623C>T (ELN) NP_001265868.1:p.Gly541=