Canonical Allele Identifier: CA1064017385

Gene: GC

Linked Data

• dbSNP Id: rs1741349116
• gnomAD v3: 4-71745924-G-A
• gnomAD v4: 4-71745924-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71745924G>A , CM000666.2:g.71745924G>A	GRCh38
NC_000004.11:g.72611641G>A , CM000666.1:g.72611641G>A	GRCh37
NC_000004.10:g.72830505G>A	NCBI36
NG_012837.2:g.64597C>T
NG_012837.3:g.64597C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000273951.13:c.*25+227C>T MANE Select	ENSP00000273951.8:n.*25+227C>T
ENST00000273951.12:c.*25+227C>T	ENSP00000273951.8:n.*25+227C>T
ENST00000503364.5:n.123+227C>T
ENST00000503472.5:n.1334+227C>T
ENST00000504199.5:c.*25+227C>T	ENSP00000421725.1:n.*25+227C>T
ENST00000509740.5:c.*273+227C>T	ENSP00000422664.1:n.*273+227C>T
ENST00000513476.5:c.1396-4054C>T	ENSP00000426683.1:n.1396-4054C>T
NM_000583.3:c.*25+227C>T	NP_000574.2:n.*25+227C>T
NM_001204306.1:c.*25+227C>T	NP_001191235.1:n.*25+227C>T
NM_001204307.1:c.*25+227C>T	NP_001191236.1:n.*25+227C>T
XM_006714177.2:c.*39+227C>T	XP_006714240.1:n.*39+227C>T
XM_006714177.3:c.*39+227C>T	XP_006714240.1:n.*39+227C>T
NM_000583.4:c.*25+227C>T MANE Select	NP_000574.2:n.*25+227C>T