Canonical Allele Identifier: CA375225178

Gene: ASS1

Linked Data

• ClinVar Variation Id: 2679051
• ClinVar RCV Id: RCV003466416
• dbSNP Id: rs1422867920
• gnomAD v2: 9-133333882-G-A
• gnomAD v3: 9-130458495-G-A
• gnomAD v4: 9-130458495-G-A
• MyVariant Identifiers: chr9:g.133333882G>A (hg19) ; chr9:g.130458495G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130458495G>A , CM000671.2:g.130458495G>A	GRCh38
NC_000009.11:g.133333882G>A , CM000671.1:g.133333882G>A	GRCh37
NC_000009.10:g.132323703G>A	NCBI36
NG_011542.1:g.18789G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.269G>A MANE Select	ENSP00000253004.6:p.Gly90Asp
ENST00000352480.9:c.269G>A	ENSP00000253004.6:p.Gly90Asp
ENST00000372393.7:c.269G>A	ENSP00000361469.2:p.Gly90Asp
ENST00000372394.5:c.269G>A	ENSP00000361471.1:p.Gly90Asp
ENST00000422569.5:c.269G>A	ENSP00000394212.1:p.Gly90Asp
ENST00000443588.1:c.269G>A	ENSP00000397785.1:p.Gly90Asp
NM_000050.4:c.269G>A	NP_000041.2:p.Gly90Asp
NM_054012.3:c.269G>A	NP_446464.1:p.Gly90Asp
XM_005272200.2:c.269G>A	XP_005272257.1:p.Gly90Asp
XM_011518705.1:c.383G>A	XP_011517007.1:p.Gly128Asp
XM_005272200.3:c.269G>A	XP_005272257.1:p.Gly90Asp
XM_011518705.2:c.383G>A	XP_011517007.1:p.Gly128Asp
XM_017014729.1:c.365G>A	XP_016870218.1:p.Gly122Asp
NM_054012.4:c.269G>A MANE Select	NP_446464.1:p.Gly90Asp