Canonical Allele Identifier: CA357204826

Gene: GC

Linked Data

• MyVariant Identifiers: chr4:g.72622520T>A (hg19) ; chr4:g.71756803T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71756803T>A , CM000666.2:g.71756803T>A	GRCh38
NC_000004.11:g.72622520T>A , CM000666.1:g.72622520T>A	GRCh37
NC_000004.10:g.72841384T>A	NCBI36
NG_012837.2:g.53718A>T
NG_012837.3:g.53718A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273951.13:c.943A>T MANE Select	ENSP00000273951.8:p.Met315Leu
ENST00000273951.12:c.943A>T	ENSP00000273951.8:p.Met315Leu
ENST00000503472.5:n.827A>T
ENST00000504199.5:c.1000A>T	ENSP00000421725.1:p.Met334Leu
ENST00000509740.5:c.943A>T	ENSP00000422664.1:p.Met315Leu
ENST00000513476.5:c.943A>T	ENSP00000426683.1:p.Met315Leu
NM_000583.3:c.943A>T	NP_000574.2:p.Met315Leu
NM_001204306.1:c.943A>T	NP_001191235.1:p.Met315Leu
NM_001204307.1:c.1000A>T	NP_001191236.1:p.Met334Leu
XM_006714177.2:c.943A>T	XP_006714240.1:p.Met315Leu
XM_006714177.3:c.943A>T	XP_006714240.1:p.Met315Leu
NM_000583.4:c.943A>T MANE Select	NP_000574.2:p.Met315Leu