Canonical Allele Identifier: CA375227469

Gene: ASS1

Linked Data

• gnomAD v4: 9-130471492-G-T
• MyVariant Identifiers: chr9:g.133346879G>T (hg19) ; chr9:g.130471492G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130471492G>T , CM000671.2:g.130471492G>T	GRCh38
NC_000009.11:g.133346879G>T , CM000671.1:g.133346879G>T	GRCh37
NC_000009.10:g.132336700G>T	NCBI36
NG_011542.1:g.31786G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.574G>T MANE Select	ENSP00000253004.6:p.Ala192Ser
ENST00000352480.9:c.574G>T	ENSP00000253004.6:p.Ala192Ser
ENST00000372393.7:c.574G>T	ENSP00000361469.2:p.Ala192Ser
ENST00000372394.5:c.574G>T	ENSP00000361471.1:p.Ala192Ser
ENST00000422569.5:c.574G>T	ENSP00000394212.1:p.Ala192Ser
ENST00000443588.1:c.517G>T	ENSP00000397785.1:p.Ala173Ser
ENST00000467695.5:n.283G>T
ENST00000493984.6:n.405G>T
NM_000050.4:c.574G>T	NP_000041.2:p.Ala192Ser
NM_054012.3:c.574G>T	NP_446464.1:p.Ala192Ser
XM_005272200.2:c.574G>T	XP_005272257.1:p.Ala192Ser
XM_011518705.1:c.688G>T	XP_011517007.1:p.Ala230Ser
XM_005272200.3:c.574G>T	XP_005272257.1:p.Ala192Ser
XM_011518705.2:c.688G>T	XP_011517007.1:p.Ala230Ser
XM_017014729.1:c.670G>T	XP_016870218.1:p.Ala224Ser
NM_054012.4:c.574G>T MANE Select	NP_446464.1:p.Ala192Ser