Canonical Allele Identifier: CA375230445

Gene: ASS1

Linked Data

• MyVariant Identifiers: chr9:g.133364722A>T (hg19) ; chr9:g.130489335A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489335A>T , CM000671.2:g.130489335A>T	GRCh38
NC_000009.11:g.133364722A>T , CM000671.1:g.133364722A>T	GRCh37
NC_000009.10:g.132354543A>T	NCBI36
NG_011542.1:g.49629A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.841A>T MANE Select	ENSP00000253004.6:p.Ile281Phe
ENST00000352480.9:c.841A>T	ENSP00000253004.6:p.Ile281Phe
ENST00000372386.6:n.112A>T
ENST00000372393.7:c.841A>T	ENSP00000361469.2:p.Ile281Phe
ENST00000372394.5:c.841A>T	ENSP00000361471.1:p.Ile281Phe
ENST00000470849.4:n.566A>T
ENST00000492400.5:n.350A>T
ENST00000493984.6:n.618A>T
NM_000050.4:c.841A>T	NP_000041.2:p.Ile281Phe
NM_054012.3:c.841A>T	NP_446464.1:p.Ile281Phe
XM_005272200.2:c.841A>T	XP_005272257.1:p.Ile281Phe
XM_011518705.1:c.955A>T	XP_011517007.1:p.Ile319Phe
XM_005272200.3:c.841A>T	XP_005272257.1:p.Ile281Phe
XM_011518705.2:c.955A>T	XP_011517007.1:p.Ile319Phe
XM_017014729.1:c.937A>T	XP_016870218.1:p.Ile313Phe
NM_054012.4:c.841A>T MANE Select	NP_446464.1:p.Ile281Phe