Canonical Allele Identifier: CA375230813

Gene: ASS1

Linked Data

• gnomAD v4: 9-130489450-A-T
• MyVariant Identifiers: chr9:g.133364837A>T (hg19) ; chr9:g.130489450A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489450A>T , CM000671.2:g.130489450A>T	GRCh38
NC_000009.11:g.133364837A>T , CM000671.1:g.133364837A>T	GRCh37
NC_000009.10:g.132354658A>T	NCBI36
NG_011542.1:g.49744A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.956A>T MANE Select	ENSP00000253004.6:p.Glu319Val
ENST00000352480.9:c.956A>T	ENSP00000253004.6:p.Glu319Val
ENST00000372386.6:n.227A>T
ENST00000372393.7:c.956A>T	ENSP00000361469.2:p.Glu319Val
ENST00000372394.5:c.956A>T	ENSP00000361471.1:p.Glu319Val
NM_000050.4:c.956A>T	NP_000041.2:p.Glu319Val
NM_054012.3:c.956A>T	NP_446464.1:p.Glu319Val
XM_005272200.2:c.956A>T	XP_005272257.1:p.Glu319Val
XM_011518705.1:c.1070A>T	XP_011517007.1:p.Glu357Val
XM_005272200.3:c.956A>T	XP_005272257.1:p.Glu319Val
XM_011518705.2:c.1070A>T	XP_011517007.1:p.Glu357Val
XM_017014729.1:c.1052A>T	XP_016870218.1:p.Glu351Val
NM_054012.4:c.956A>T MANE Select	NP_446464.1:p.Glu319Val