Canonical Allele Identifier: CA375230571

Gene: ASS1

Linked Data

• MyVariant Identifiers: chr9:g.133364780T>A (hg19) ; chr9:g.130489393T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489393T>A , CM000671.2:g.130489393T>A	GRCh38
NC_000009.11:g.133364780T>A , CM000671.1:g.133364780T>A	GRCh37
NC_000009.10:g.132354601T>A	NCBI36
NG_011542.1:g.49687T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.899T>A MANE Select	ENSP00000253004.6:p.Phe300Tyr
ENST00000352480.9:c.899T>A	ENSP00000253004.6:p.Phe300Tyr
ENST00000372386.6:n.170T>A
ENST00000372393.7:c.899T>A	ENSP00000361469.2:p.Phe300Tyr
ENST00000372394.5:c.899T>A	ENSP00000361471.1:p.Phe300Tyr
ENST00000470849.4:n.624T>A
ENST00000492400.5:n.408T>A
ENST00000493984.6:n.676T>A
NM_000050.4:c.899T>A	NP_000041.2:p.Phe300Tyr
NM_054012.3:c.899T>A	NP_446464.1:p.Phe300Tyr
XM_005272200.2:c.899T>A	XP_005272257.1:p.Phe300Tyr
XM_011518705.1:c.1013T>A	XP_011517007.1:p.Phe338Tyr
XM_005272200.3:c.899T>A	XP_005272257.1:p.Phe300Tyr
XM_011518705.2:c.1013T>A	XP_011517007.1:p.Phe338Tyr
XM_017014729.1:c.995T>A	XP_016870218.1:p.Phe332Tyr
NM_054012.4:c.899T>A MANE Select	NP_446464.1:p.Phe300Tyr