Canonical Allele Identifier: CA375225749

Gene: ASS1

Linked Data

• COSMIC: COSM4894240
• MyVariant Identifiers: chr9:g.133339499G>A (hg19) ; chr9:g.130464112G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130464112G>A , CM000671.2:g.130464112G>A	GRCh38
NC_000009.11:g.133339499G>A , CM000671.1:g.133339499G>A	GRCh37
NC_000009.10:g.132329320G>A	NCBI36
NG_011542.1:g.24406G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.365G>A MANE Select	ENSP00000253004.6:p.Gly122Glu
ENST00000352480.9:c.365G>A	ENSP00000253004.6:p.Gly122Glu
ENST00000372393.7:c.365G>A	ENSP00000361469.2:p.Gly122Glu
ENST00000372394.5:c.365G>A	ENSP00000361471.1:p.Gly122Glu
ENST00000422569.5:c.365G>A	ENSP00000394212.1:p.Gly122Glu
ENST00000443588.1:c.364-2613G>A	ENSP00000397785.1:n.364-2613G>A
ENST00000467695.5:n.74G>A
NM_000050.4:c.365G>A	NP_000041.2:p.Gly122Glu
NM_054012.3:c.365G>A	NP_446464.1:p.Gly122Glu
XM_005272200.2:c.365G>A	XP_005272257.1:p.Gly122Glu
XM_011518705.1:c.479G>A	XP_011517007.1:p.Gly160Glu
XM_005272200.3:c.365G>A	XP_005272257.1:p.Gly122Glu
XM_011518705.2:c.479G>A	XP_011517007.1:p.Gly160Glu
XM_017014729.1:c.461G>A	XP_016870218.1:p.Gly154Glu
NM_054012.4:c.365G>A MANE Select	NP_446464.1:p.Gly122Glu