Canonical Allele Identifier: CA375229500

Gene: ASS1

Linked Data

• MyVariant Identifiers: chr9:g.133355817C>A (hg19) ; chr9:g.130480430C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130480430C>A , CM000671.2:g.130480430C>A	GRCh38
NC_000009.11:g.133355817C>A , CM000671.1:g.133355817C>A	GRCh37
NC_000009.10:g.132345638C>A	NCBI36
NG_011542.1:g.40724C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.819C>A MANE Select	ENSP00000253004.6:p.Phe273Leu
ENST00000352480.9:c.819C>A	ENSP00000253004.6:p.Phe273Leu
ENST00000372386.6:n.90C>A
ENST00000372393.7:c.819C>A	ENSP00000361469.2:p.Phe273Leu
ENST00000372394.5:c.819C>A	ENSP00000361471.1:p.Phe273Leu
ENST00000470849.4:n.544C>A
ENST00000492400.5:n.328C>A
ENST00000493984.6:n.596C>A
NM_000050.4:c.819C>A	NP_000041.2:p.Phe273Leu
NM_054012.3:c.819C>A	NP_446464.1:p.Phe273Leu
XM_005272200.2:c.819C>A	XP_005272257.1:p.Phe273Leu
XM_011518705.1:c.933C>A	XP_011517007.1:p.Phe311Leu
XM_005272200.3:c.819C>A	XP_005272257.1:p.Phe273Leu
XM_011518705.2:c.933C>A	XP_011517007.1:p.Phe311Leu
XM_017014729.1:c.915C>A	XP_016870218.1:p.Phe305Leu
NM_054012.4:c.819C>A MANE Select	NP_446464.1:p.Phe273Leu