Canonical Allele Identifier: CA467385735

Gene: ASS1

Linked Data

• gnomAD v4: 9-130489448-T-A
• MyVariant Identifiers: chr9:g.133364835T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489448T>A , CM000671.2:g.130489448T>A	GRCh38
NC_000009.11:g.133364835T>A , CM000671.1:g.133364835T>A	GRCh37
NC_000009.10:g.132354656T>A	NCBI36
NG_011542.1:g.49742T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.954T>A MANE Select	ENSP00000253004.6:p.Ala318=
ENST00000352480.9:c.954T>A	ENSP00000253004.6:p.Ala318=
ENST00000372386.6:n.225T>A
ENST00000372393.7:c.954T>A	ENSP00000361469.2:p.Ala318=
ENST00000372394.5:c.954T>A	ENSP00000361471.1:p.Ala318=
NM_000050.4:c.954T>A	NP_000041.2:p.Ala318=
NM_054012.3:c.954T>A	NP_446464.1:p.Ala318=
XM_005272200.2:c.954T>A	XP_005272257.1:p.Ala318=
XM_011518705.1:c.1068T>A	XP_011517007.1:p.Ala356=
XM_005272200.3:c.954T>A	XP_005272257.1:p.Ala318=
XM_011518705.2:c.1068T>A	XP_011517007.1:p.Ala356=
XM_017014729.1:c.1050T>A	XP_016870218.1:p.Ala350=
NM_054012.4:c.954T>A MANE Select	NP_446464.1:p.Ala318=