Canonical Allele Identifier: CA1064002720
Gene: GC HGNC NCBI

Linked Data

dbSNP Id: rs1742802400
gnomAD v3: 4-71785132-G-A
gnomAD v4: 4-71785132-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71785132G>A , CM000666.2:g.71785132G>A GRCh38
NC_000004.11:g.72650849G>A , CM000666.1:g.72650849G>A GRCh37
NC_000004.10:g.72869713G>A NCBI36
NG_012837.2:g.25389C>T
NG_012837.3:g.25389C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000504199.5:c.22-1078C>T ENSP00000421725.1:n.22-1078C>T
ENST00000506245.1:c.-37+788C>T ENSP00000426718.1:n.-37+788C>T
NM_001204306.1:c.-36-1078C>T NP_001191235.1:n.-36-1078C>T
NM_001204307.1:c.22-1078C>T NP_001191236.1:n.22-1078C>T
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