Canonical Allele Identifier: CA375230479

Gene: ASS1

Linked Data

• MyVariant Identifiers: chr9:g.133364738C>A (hg19) ; chr9:g.130489351C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489351C>A , CM000671.2:g.130489351C>A	GRCh38
NC_000009.11:g.133364738C>A , CM000671.1:g.133364738C>A	GRCh37
NC_000009.10:g.132354559C>A	NCBI36
NG_011542.1:g.49645C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.857C>A MANE Select	ENSP00000253004.6:p.Ala286Glu
ENST00000352480.9:c.857C>A	ENSP00000253004.6:p.Ala286Glu
ENST00000372386.6:n.128C>A
ENST00000372393.7:c.857C>A	ENSP00000361469.2:p.Ala286Glu
ENST00000372394.5:c.857C>A	ENSP00000361471.1:p.Ala286Glu
ENST00000470849.4:n.582C>A
ENST00000492400.5:n.366C>A
ENST00000493984.6:n.634C>A
NM_000050.4:c.857C>A	NP_000041.2:p.Ala286Glu
NM_054012.3:c.857C>A	NP_446464.1:p.Ala286Glu
XM_005272200.2:c.857C>A	XP_005272257.1:p.Ala286Glu
XM_011518705.1:c.971C>A	XP_011517007.1:p.Ala324Glu
XM_005272200.3:c.857C>A	XP_005272257.1:p.Ala286Glu
XM_011518705.2:c.971C>A	XP_011517007.1:p.Ala324Glu
XM_017014729.1:c.953C>A	XP_016870218.1:p.Ala318Glu
NM_054012.4:c.857C>A MANE Select	NP_446464.1:p.Ala286Glu