Canonical Allele Identifier: CA1467351316

Gene: GC

Linked Data

• dbSNP Id: rs1042726317
• gnomAD v3: 4-71745960-A-T
• gnomAD v4: 4-71745960-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71745960A>T , CM000666.2:g.71745960A>T	GRCh38
NC_000004.11:g.72611677A>T , CM000666.1:g.72611677A>T	GRCh37
NC_000004.10:g.72830541A>T	NCBI36
NG_012837.2:g.64561T>A
NG_012837.3:g.64561T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273951.13:c.*25+191T>A MANE Select	ENSP00000273951.8:n.*25+191T>A
ENST00000273951.12:c.*25+191T>A	ENSP00000273951.8:n.*25+191T>A
ENST00000503364.5:n.123+191T>A
ENST00000503472.5:n.1334+191T>A
ENST00000504199.5:c.*25+191T>A	ENSP00000421725.1:n.*25+191T>A
ENST00000509740.5:c.*273+191T>A	ENSP00000422664.1:n.*273+191T>A
ENST00000513476.5:c.1396-4090T>A	ENSP00000426683.1:n.1396-4090T>A
NM_000583.3:c.*25+191T>A	NP_000574.2:n.*25+191T>A
NM_001204306.1:c.*25+191T>A	NP_001191235.1:n.*25+191T>A
NM_001204307.1:c.*25+191T>A	NP_001191236.1:n.*25+191T>A
XM_006714177.2:c.*39+191T>A	XP_006714240.1:n.*39+191T>A
XM_006714177.3:c.*39+191T>A	XP_006714240.1:n.*39+191T>A
NM_000583.4:c.*25+191T>A MANE Select	NP_000574.2:n.*25+191T>A