Canonical Allele Identifier: CA2955879
Gene: GC HGNC NCBI

Linked Data

dbSNP Id: rs771004579
gnomAD v2: 4-72649792-G-A
gnomAD v3: 4-71784075-G-A
gnomAD v4: 4-71784075-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71784075G>A , CM000666.2:g.71784075G>A GRCh38
NC_000004.11:g.72649792G>A , CM000666.1:g.72649792G>A GRCh37
NC_000004.10:g.72868656G>A NCBI36
NG_012837.2:g.26446C>T
NG_012837.3:g.26446C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000273951.13:c.-57C>T MANE Select ENSP00000273951.8:n.-57C>T
ENST00000273951.12:c.-57C>T ENSP00000273951.8:n.-57C>T
ENST00000504199.5:c.22-21C>T ENSP00000421725.1:n.22-21C>T
ENST00000506245.1:c.-36-21C>T ENSP00000426718.1:n.-36-21C>T
NM_000583.3:c.-57C>T NP_000574.2:n.-57C>T
NM_001204306.1:c.-36-21C>T NP_001191235.1:n.-36-21C>T
NM_001204307.1:c.22-21C>T NP_001191236.1:n.22-21C>T
XM_006714177.2:c.-57C>T XP_006714240.1:n.-57C>T
XM_006714177.3:c.-57C>T XP_006714240.1:n.-57C>T
NM_000583.4:c.-57C>T MANE Select NP_000574.2:n.-57C>T