Canonical Allele Identifier: CA467385714

Gene: ASS1

Linked Data

• gnomAD v4: 9-130489433-G-A
• MyVariant Identifiers: chr9:g.133364820G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489433G>A , CM000671.2:g.130489433G>A	GRCh38
NC_000009.11:g.133364820G>A , CM000671.1:g.133364820G>A	GRCh37
NC_000009.10:g.132354641G>A	NCBI36
NG_011542.1:g.49727G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.939G>A MANE Select	ENSP00000253004.6:p.Leu313=
ENST00000352480.9:c.939G>A	ENSP00000253004.6:p.Leu313=
ENST00000372386.6:n.210G>A
ENST00000372393.7:c.939G>A	ENSP00000361469.2:p.Leu313=
ENST00000372394.5:c.939G>A	ENSP00000361471.1:p.Leu313=
NM_000050.4:c.939G>A	NP_000041.2:p.Leu313=
NM_054012.3:c.939G>A	NP_446464.1:p.Leu313=
XM_005272200.2:c.939G>A	XP_005272257.1:p.Leu313=
XM_011518705.1:c.1053G>A	XP_011517007.1:p.Leu351=
XM_005272200.3:c.939G>A	XP_005272257.1:p.Leu313=
XM_011518705.2:c.1053G>A	XP_011517007.1:p.Leu351=
XM_017014729.1:c.1035G>A	XP_016870218.1:p.Leu345=
NM_054012.4:c.939G>A MANE Select	NP_446464.1:p.Leu313=