Canonical Allele Identifier: CA375225171

Gene: ASS1

Linked Data

• dbSNP Id: rs1277427690
• gnomAD v2: 9-133333878-C-G
• gnomAD v4: 9-130458491-C-G
• MyVariant Identifiers: chr9:g.133333878C>G (hg19) ; chr9:g.130458491C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130458491C>G , CM000671.2:g.130458491C>G	GRCh38
NC_000009.11:g.133333878C>G , CM000671.1:g.133333878C>G	GRCh37
NC_000009.10:g.132323699C>G	NCBI36
NG_011542.1:g.18785C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.265C>G MANE Select	ENSP00000253004.6:p.Leu89Val
ENST00000352480.9:c.265C>G	ENSP00000253004.6:p.Leu89Val
ENST00000372393.7:c.265C>G	ENSP00000361469.2:p.Leu89Val
ENST00000372394.5:c.265C>G	ENSP00000361471.1:p.Leu89Val
ENST00000422569.5:c.265C>G	ENSP00000394212.1:p.Leu89Val
ENST00000443588.1:c.265C>G	ENSP00000397785.1:p.Leu89Val
NM_000050.4:c.265C>G	NP_000041.2:p.Leu89Val
NM_054012.3:c.265C>G	NP_446464.1:p.Leu89Val
XM_005272200.2:c.265C>G	XP_005272257.1:p.Leu89Val
XM_011518705.1:c.379C>G	XP_011517007.1:p.Leu127Val
XM_005272200.3:c.265C>G	XP_005272257.1:p.Leu89Val
XM_011518705.2:c.379C>G	XP_011517007.1:p.Leu127Val
XM_017014729.1:c.361C>G	XP_016870218.1:p.Leu121Val
NM_054012.4:c.265C>G MANE Select	NP_446464.1:p.Leu89Val