Canonical Allele Identifier: CA375229024

Gene: ASS1

Linked Data

• MyVariant Identifiers: chr9:g.133355103G>A (hg19) ; chr9:g.130479716G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130479716G>A , CM000671.2:g.130479716G>A	GRCh38
NC_000009.11:g.133355103G>A , CM000671.1:g.133355103G>A	GRCh37
NC_000009.10:g.132344924G>A	NCBI36
NG_011542.1:g.40010G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.689G>A MANE Select	ENSP00000253004.6:p.Gly230Glu
ENST00000352480.9:c.689G>A	ENSP00000253004.6:p.Gly230Glu
ENST00000372393.7:c.689G>A	ENSP00000361469.2:p.Gly230Glu
ENST00000372394.5:c.689G>A	ENSP00000361471.1:p.Gly230Glu
ENST00000467695.5:n.398G>A
ENST00000470849.4:n.414G>A
ENST00000492400.5:n.198G>A
ENST00000493984.6:n.513-47G>A
NM_000050.4:c.689G>A	NP_000041.2:p.Gly230Glu
NM_054012.3:c.689G>A	NP_446464.1:p.Gly230Glu
XM_005272200.2:c.689G>A	XP_005272257.1:p.Gly230Glu
XM_011518705.1:c.803G>A	XP_011517007.1:p.Gly268Glu
XM_005272200.3:c.689G>A	XP_005272257.1:p.Gly230Glu
XM_011518705.2:c.803G>A	XP_011517007.1:p.Gly268Glu
XM_017014729.1:c.785G>A	XP_016870218.1:p.Gly262Glu
NM_054012.4:c.689G>A MANE Select	NP_446464.1:p.Gly230Glu