Canonical Allele Identifier: CA375227438

Gene: ASS1

Linked Data

• MyVariant Identifiers: chr9:g.133346872C>G (hg19) ; chr9:g.130471485C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130471485C>G , CM000671.2:g.130471485C>G	GRCh38
NC_000009.11:g.133346872C>G , CM000671.1:g.133346872C>G	GRCh37
NC_000009.10:g.132336693C>G	NCBI36
NG_011542.1:g.31779C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.567C>G MANE Select	ENSP00000253004.6:p.Ser189Arg
ENST00000352480.9:c.567C>G	ENSP00000253004.6:p.Ser189Arg
ENST00000372393.7:c.567C>G	ENSP00000361469.2:p.Ser189Arg
ENST00000372394.5:c.567C>G	ENSP00000361471.1:p.Ser189Arg
ENST00000422569.5:c.567C>G	ENSP00000394212.1:p.Ser189Arg
ENST00000443588.1:c.510C>G	ENSP00000397785.1:p.Ser170Arg
ENST00000467695.5:n.276C>G
ENST00000493984.6:n.398C>G
NM_000050.4:c.567C>G	NP_000041.2:p.Ser189Arg
NM_054012.3:c.567C>G	NP_446464.1:p.Ser189Arg
XM_005272200.2:c.567C>G	XP_005272257.1:p.Ser189Arg
XM_011518705.1:c.681C>G	XP_011517007.1:p.Ser227Arg
XM_005272200.3:c.567C>G	XP_005272257.1:p.Ser189Arg
XM_011518705.2:c.681C>G	XP_011517007.1:p.Ser227Arg
XM_017014729.1:c.663C>G	XP_016870218.1:p.Ser221Arg
NM_054012.4:c.567C>G MANE Select	NP_446464.1:p.Ser189Arg