Canonical Allele Identifier: CA375230776

Gene: ASS1

Linked Data

• MyVariant Identifiers: chr9:g.133364830T>A (hg19) ; chr9:g.130489443T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489443T>A , CM000671.2:g.130489443T>A	GRCh38
NC_000009.11:g.133364830T>A , CM000671.1:g.133364830T>A	GRCh37
NC_000009.10:g.132354651T>A	NCBI36
NG_011542.1:g.49737T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.949T>A MANE Select	ENSP00000253004.6:p.Phe317Ile
ENST00000352480.9:c.949T>A	ENSP00000253004.6:p.Phe317Ile
ENST00000372386.6:n.220T>A
ENST00000372393.7:c.949T>A	ENSP00000361469.2:p.Phe317Ile
ENST00000372394.5:c.949T>A	ENSP00000361471.1:p.Phe317Ile
NM_000050.4:c.949T>A	NP_000041.2:p.Phe317Ile
NM_054012.3:c.949T>A	NP_446464.1:p.Phe317Ile
XM_005272200.2:c.949T>A	XP_005272257.1:p.Phe317Ile
XM_011518705.1:c.1063T>A	XP_011517007.1:p.Phe355Ile
XM_005272200.3:c.949T>A	XP_005272257.1:p.Phe317Ile
XM_011518705.2:c.1063T>A	XP_011517007.1:p.Phe355Ile
XM_017014729.1:c.1045T>A	XP_016870218.1:p.Phe349Ile
NM_054012.4:c.949T>A MANE Select	NP_446464.1:p.Phe317Ile