Canonical Allele Identifier: CA357204746

Gene: GC

Linked Data

• MyVariant Identifiers: chr4:g.72622481A>T (hg19) ; chr4:g.71756764A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71756764A>T , CM000666.2:g.71756764A>T	GRCh38
NC_000004.11:g.72622481A>T , CM000666.1:g.72622481A>T	GRCh37
NC_000004.10:g.72841345A>T	NCBI36
NG_012837.2:g.53757T>A
NG_012837.3:g.53757T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273951.13:c.982T>A MANE Select	ENSP00000273951.8:p.Leu328Met
ENST00000273951.12:c.982T>A	ENSP00000273951.8:p.Leu328Met
ENST00000503472.5:n.866T>A
ENST00000504199.5:c.1039T>A	ENSP00000421725.1:p.Leu347Met
ENST00000509740.5:c.982T>A	ENSP00000422664.1:p.Leu328Met
ENST00000513476.5:c.982T>A	ENSP00000426683.1:p.Leu328Met
NM_000583.3:c.982T>A	NP_000574.2:p.Leu328Met
NM_001204306.1:c.982T>A	NP_001191235.1:p.Leu328Met
NM_001204307.1:c.1039T>A	NP_001191236.1:p.Leu347Met
XM_006714177.2:c.982T>A	XP_006714240.1:p.Leu328Met
XM_006714177.3:c.982T>A	XP_006714240.1:p.Leu328Met
NM_000583.4:c.982T>A MANE Select	NP_000574.2:p.Leu328Met