Canonical Allele Identifier: CA357204691

Gene: GC

Linked Data

• gnomAD v4: 4-71756739-T-A
• MyVariant Identifiers: chr4:g.72622456T>A (hg19) ; chr4:g.71756739T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71756739T>A , CM000666.2:g.71756739T>A	GRCh38
NC_000004.11:g.72622456T>A , CM000666.1:g.72622456T>A	GRCh37
NC_000004.10:g.72841320T>A	NCBI36
NG_012837.2:g.53782A>T
NG_012837.3:g.53782A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273951.13:c.1007A>T MANE Select	ENSP00000273951.8:p.Asp336Val
ENST00000273951.12:c.1007A>T	ENSP00000273951.8:p.Asp336Val
ENST00000503472.5:n.891A>T
ENST00000504199.5:c.1064A>T	ENSP00000421725.1:p.Asp355Val
ENST00000509740.5:c.1007A>T	ENSP00000422664.1:p.Asp336Val
ENST00000513476.5:c.1007A>T	ENSP00000426683.1:p.Asp336Val
NM_000583.3:c.1007A>T	NP_000574.2:p.Asp336Val
NM_001204306.1:c.1007A>T	NP_001191235.1:p.Asp336Val
NM_001204307.1:c.1064A>T	NP_001191236.1:p.Asp355Val
XM_006714177.2:c.1007A>T	XP_006714240.1:p.Asp336Val
XM_006714177.3:c.1007A>T	XP_006714240.1:p.Asp336Val
NM_000583.4:c.1007A>T MANE Select	NP_000574.2:p.Asp336Val