Canonical Allele Identifier: CA375224782

Gene: ASS1

Linked Data

• MyVariant Identifiers: chr9:g.133333791T>G (hg19) ; chr9:g.130458404T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130458404T>G , CM000671.2:g.130458404T>G	GRCh38
NC_000009.11:g.133333791T>G , CM000671.1:g.133333791T>G	GRCh37
NC_000009.10:g.132323612T>G	NCBI36
NG_011542.1:g.18698T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.178T>G MANE Select	ENSP00000253004.6:p.Phe60Val
ENST00000352480.9:c.178T>G	ENSP00000253004.6:p.Phe60Val
ENST00000372393.7:c.178T>G	ENSP00000361469.2:p.Phe60Val
ENST00000372394.5:c.178T>G	ENSP00000361471.1:p.Phe60Val
ENST00000422569.5:c.178T>G	ENSP00000394212.1:p.Phe60Val
ENST00000443588.1:c.178T>G	ENSP00000397785.1:p.Phe60Val
NM_000050.4:c.178T>G	NP_000041.2:p.Phe60Val
NM_054012.3:c.178T>G	NP_446464.1:p.Phe60Val
XM_005272200.2:c.178T>G	XP_005272257.1:p.Phe60Val
XM_011518705.1:c.292T>G	XP_011517007.1:p.Phe98Val
XM_005272200.3:c.178T>G	XP_005272257.1:p.Phe60Val
XM_011518705.2:c.292T>G	XP_011517007.1:p.Phe98Val
XM_017014729.1:c.274T>G	XP_016870218.1:p.Phe92Val
NM_054012.4:c.178T>G MANE Select	NP_446464.1:p.Phe60Val