Canonical Allele Identifier: CA99062543
Gene: GC HGNC NCBI

Linked Data

dbSNP Id: rs143559418

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71751276C>T , CM000666.2:g.71751276C>T GRCh38
NC_000004.11:g.72616993C>T , CM000666.1:g.72616993C>T GRCh37
NC_000004.10:g.72835857C>T NCBI36
NG_012837.2:g.59245G>A
NG_012837.3:g.59245G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000273951.13:c.1395+1242G>A MANE Select ENSP00000273951.8:p.=
ENST00000273951.12:c.1395+1242G>A ENSP00000273951.8:p.=
ENST00000503364.5:n.68+3135G>A
ENST00000503472.5:n.1279+1242G>A
ENST00000504199.5:c.1452+1242G>A ENSP00000421725.1:p.=
ENST00000509740.5:c.*218+1242G>A ENSP00000422664.1:p.=
ENST00000513476.5:c.1395+1242G>A ENSP00000426683.1:p.=
NM_000583.3:c.1395+1242G>A NP_000574.2:p.=
NM_001204306.1:c.1395+1242G>A NP_001191235.1:p.=
NM_001204307.1:c.1452+1242G>A NP_001191236.1:p.=
XM_006714177.2:c.1262+3135G>A XP_006714240.1:p.=
XM_006714177.3:c.1262+3135G>A XP_006714240.1:p.=
NM_000583.4:c.1395+1242G>A MANE Select NP_000574.2:p.=