Canonical Allele Identifier: CA467389264

Gene: ASS1

Linked Data

• gnomAD v4: 9-130471506-G-A
• MyVariant Identifiers: chr9:g.133346893G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130471506G>A , CM000671.2:g.130471506G>A	GRCh38
NC_000009.11:g.133346893G>A , CM000671.1:g.133346893G>A	GRCh37
NC_000009.10:g.132336714G>A	NCBI36
NG_011542.1:g.31800G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.588G>A MANE Select	ENSP00000253004.6:p.Glu196=
ENST00000352480.9:c.588G>A	ENSP00000253004.6:p.Glu196=
ENST00000372393.7:c.588G>A	ENSP00000361469.2:p.Glu196=
ENST00000372394.5:c.588G>A	ENSP00000361471.1:p.Glu196=
ENST00000422569.5:c.588G>A	ENSP00000394212.1:p.Glu196=
ENST00000443588.1:c.531G>A	ENSP00000397785.1:p.Glu177=
ENST00000467695.5:n.297G>A
ENST00000493984.6:n.419G>A
NM_000050.4:c.588G>A	NP_000041.2:p.Glu196=
NM_054012.3:c.588G>A	NP_446464.1:p.Glu196=
XM_005272200.2:c.588G>A	XP_005272257.1:p.Glu196=
XM_011518705.1:c.702G>A	XP_011517007.1:p.Glu234=
XM_005272200.3:c.588G>A	XP_005272257.1:p.Glu196=
XM_011518705.2:c.702G>A	XP_011517007.1:p.Glu234=
XM_017014729.1:c.684G>A	XP_016870218.1:p.Glu228=
NM_054012.4:c.588G>A MANE Select	NP_446464.1:p.Glu196=