Canonical Allele Identifier: CA375224771

Gene: ASS1

Linked Data

• dbSNP Id: rs1390986372
• gnomAD v2: 9-133333788-G-A
• gnomAD v4: 9-130458401-G-A
• MyVariant Identifiers: chr9:g.133333788G>A (hg19) ; chr9:g.130458401G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130458401G>A , CM000671.2:g.130458401G>A	GRCh38
NC_000009.11:g.133333788G>A , CM000671.1:g.133333788G>A	GRCh37
NC_000009.10:g.132323609G>A	NCBI36
NG_011542.1:g.18695G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.175G>A MANE Select	ENSP00000253004.6:p.Val59Met
ENST00000352480.9:c.175G>A	ENSP00000253004.6:p.Val59Met
ENST00000372393.7:c.175G>A	ENSP00000361469.2:p.Val59Met
ENST00000372394.5:c.175G>A	ENSP00000361471.1:p.Val59Met
ENST00000422569.5:c.175G>A	ENSP00000394212.1:p.Val59Met
ENST00000443588.1:c.175G>A	ENSP00000397785.1:p.Val59Met
NM_000050.4:c.175G>A	NP_000041.2:p.Val59Met
NM_054012.3:c.175G>A	NP_446464.1:p.Val59Met
XM_005272200.2:c.175G>A	XP_005272257.1:p.Val59Met
XM_011518705.1:c.289G>A	XP_011517007.1:p.Val97Met
XM_005272200.3:c.175G>A	XP_005272257.1:p.Val59Met
XM_011518705.2:c.289G>A	XP_011517007.1:p.Val97Met
XM_017014729.1:c.271G>A	XP_016870218.1:p.Val91Met
NM_054012.4:c.175G>A MANE Select	NP_446464.1:p.Val59Met