Canonical Allele Identifier: CA2955876
Gene: GC HGNC NCBI

Linked Data

dbSNP Id: rs779811790
gnomAD v2: 4-72649783-C-T
gnomAD v4: 4-71784066-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71784066C>T , CM000666.2:g.71784066C>T GRCh38
NC_000004.11:g.72649783C>T , CM000666.1:g.72649783C>T GRCh37
NC_000004.10:g.72868647C>T NCBI36
NG_012837.2:g.26455G>A
NG_012837.3:g.26455G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000273951.13:c.-48G>A MANE Select ENSP00000273951.8:n.-48G>A
ENST00000273951.12:c.-48G>A ENSP00000273951.8:n.-48G>A
ENST00000504199.5:c.22-12G>A ENSP00000421725.1:n.22-12G>A
ENST00000506245.1:c.-36-12G>A ENSP00000426718.1:n.-36-12G>A
NM_000583.3:c.-48G>A NP_000574.2:n.-48G>A
NM_001204306.1:c.-36-12G>A NP_001191235.1:n.-36-12G>A
NM_001204307.1:c.22-12G>A NP_001191236.1:n.22-12G>A
XM_006714177.2:c.-48G>A XP_006714240.1:n.-48G>A
XM_006714177.3:c.-48G>A XP_006714240.1:n.-48G>A
NM_000583.4:c.-48G>A MANE Select NP_000574.2:n.-48G>A