Canonical Allele Identifier: CA375230514

Gene: ASS1

Linked Data

• MyVariant Identifiers: chr9:g.133364754C>A (hg19) ; chr9:g.130489367C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489367C>A , CM000671.2:g.130489367C>A	GRCh38
NC_000009.11:g.133364754C>A , CM000671.1:g.133364754C>A	GRCh37
NC_000009.10:g.132354575C>A	NCBI36
NG_011542.1:g.49661C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.873C>A MANE Select	ENSP00000253004.6:p.Tyr291Ter
ENST00000352480.9:c.873C>A	ENSP00000253004.6:p.Tyr291Ter
ENST00000372386.6:n.144C>A
ENST00000372393.7:c.873C>A	ENSP00000361469.2:p.Tyr291Ter
ENST00000372394.5:c.873C>A	ENSP00000361471.1:p.Tyr291Ter
ENST00000470849.4:n.598C>A
ENST00000492400.5:n.382C>A
ENST00000493984.6:n.650C>A
NM_000050.4:c.873C>A	NP_000041.2:p.Tyr291Ter
NM_054012.3:c.873C>A	NP_446464.1:p.Tyr291Ter
XM_005272200.2:c.873C>A	XP_005272257.1:p.Tyr291Ter
XM_011518705.1:c.987C>A	XP_011517007.1:p.Tyr329Ter
XM_005272200.3:c.873C>A	XP_005272257.1:p.Tyr291Ter
XM_011518705.2:c.987C>A	XP_011517007.1:p.Tyr329Ter
XM_017014729.1:c.969C>A	XP_016870218.1:p.Tyr323Ter
NM_054012.4:c.873C>A MANE Select	NP_446464.1:p.Tyr291Ter