Canonical Allele Identifier: CA552289420

Gene: GC

Linked Data

• dbSNP Id: rs1423237173
• gnomAD v2: 4-72611630-T-A
• gnomAD v3: 4-71745913-T-A
• gnomAD v4: 4-71745913-T-A
• MyVariant Identifiers: chr4:g.72611630T>A (hg19) ; chr4:g.71745913T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71745913T>A , CM000666.2:g.71745913T>A	GRCh38
NC_000004.11:g.72611630T>A , CM000666.1:g.72611630T>A	GRCh37
NC_000004.10:g.72830494T>A	NCBI36
NG_012837.2:g.64608A>T
NG_012837.3:g.64608A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000273951.13:c.*25+238A>T MANE Select	ENSP00000273951.8:n.*25+238A>T
ENST00000273951.12:c.*25+238A>T	ENSP00000273951.8:n.*25+238A>T
ENST00000503364.5:n.123+238A>T
ENST00000503472.5:n.1334+238A>T
ENST00000504199.5:c.*25+238A>T	ENSP00000421725.1:n.*25+238A>T
ENST00000509740.5:c.*273+238A>T	ENSP00000422664.1:n.*273+238A>T
ENST00000513476.5:c.1396-4043A>T	ENSP00000426683.1:n.1396-4043A>T
NM_000583.3:c.*25+238A>T	NP_000574.2:n.*25+238A>T
NM_001204306.1:c.*25+238A>T	NP_001191235.1:n.*25+238A>T
NM_001204307.1:c.*25+238A>T	NP_001191236.1:n.*25+238A>T
XM_006714177.2:c.*39+238A>T	XP_006714240.1:n.*39+238A>T
XM_006714177.3:c.*39+238A>T	XP_006714240.1:n.*39+238A>T
NM_000583.4:c.*25+238A>T MANE Select	NP_000574.2:n.*25+238A>T