Canonical Allele Identifier: CA798107034
Gene: GC HGNC NCBI

Linked Data

dbSNP Id: rs1166946625
gnomAD v3: 4-71751229-G-A
gnomAD v4: 4-71751229-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71751229G>A , CM000666.2:g.71751229G>A GRCh38
NC_000004.11:g.72616946G>A , CM000666.1:g.72616946G>A GRCh37
NC_000004.10:g.72835810G>A NCBI36
NG_012837.2:g.59292C>T
NG_012837.3:g.59292C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000273951.13:c.1395+1289C>T MANE Select ENSP00000273951.8:n.1395+1289C>T
ENST00000273951.12:c.1395+1289C>T ENSP00000273951.8:n.1395+1289C>T
ENST00000503364.5:n.68+3182C>T
ENST00000503472.5:n.1279+1289C>T
ENST00000504199.5:c.1452+1289C>T ENSP00000421725.1:n.1452+1289C>T
ENST00000509740.5:c.*218+1289C>T ENSP00000422664.1:n.*218+1289C>T
ENST00000513476.5:c.1395+1289C>T ENSP00000426683.1:n.1395+1289C>T
NM_000583.3:c.1395+1289C>T NP_000574.2:n.1395+1289C>T
NM_001204306.1:c.1395+1289C>T NP_001191235.1:n.1395+1289C>T
NM_001204307.1:c.1452+1289C>T NP_001191236.1:n.1452+1289C>T
XM_006714177.2:c.1262+3182C>T XP_006714240.1:n.1262+3182C>T
XM_006714177.3:c.1262+3182C>T XP_006714240.1:n.1262+3182C>T
NM_000583.4:c.1395+1289C>T MANE Select NP_000574.2:n.1395+1289C>T