Canonical Allele Identifier: CA375230503

Gene: ASS1

Linked Data

• MyVariant Identifiers: chr9:g.133364749C>T (hg19) ; chr9:g.130489362C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489362C>T , CM000671.2:g.130489362C>T	GRCh38
NC_000009.11:g.133364749C>T , CM000671.1:g.133364749C>T	GRCh37
NC_000009.10:g.132354570C>T	NCBI36
NG_011542.1:g.49656C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.868C>T MANE Select	ENSP00000253004.6:p.Leu290Phe
ENST00000352480.9:c.868C>T	ENSP00000253004.6:p.Leu290Phe
ENST00000372386.6:n.139C>T
ENST00000372393.7:c.868C>T	ENSP00000361469.2:p.Leu290Phe
ENST00000372394.5:c.868C>T	ENSP00000361471.1:p.Leu290Phe
ENST00000470849.4:n.593C>T
ENST00000492400.5:n.377C>T
ENST00000493984.6:n.645C>T
NM_000050.4:c.868C>T	NP_000041.2:p.Leu290Phe
NM_054012.3:c.868C>T	NP_446464.1:p.Leu290Phe
XM_005272200.2:c.868C>T	XP_005272257.1:p.Leu290Phe
XM_011518705.1:c.982C>T	XP_011517007.1:p.Leu328Phe
XM_005272200.3:c.868C>T	XP_005272257.1:p.Leu290Phe
XM_011518705.2:c.982C>T	XP_011517007.1:p.Leu328Phe
XM_017014729.1:c.964C>T	XP_016870218.1:p.Leu322Phe
NM_054012.4:c.868C>T MANE Select	NP_446464.1:p.Leu290Phe