Canonical Allele Identifier: CA467385614

Gene: ASS1

Linked Data

• MyVariant Identifiers: chr9:g.133364760T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489373T>C , CM000671.2:g.130489373T>C	GRCh38
NC_000009.11:g.133364760T>C , CM000671.1:g.133364760T>C	GRCh37
NC_000009.10:g.132354581T>C	NCBI36
NG_011542.1:g.49667T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.879T>C MANE Select	ENSP00000253004.6:p.Ala293=
ENST00000352480.9:c.879T>C	ENSP00000253004.6:p.Ala293=
ENST00000372386.6:n.150T>C
ENST00000372393.7:c.879T>C	ENSP00000361469.2:p.Ala293=
ENST00000372394.5:c.879T>C	ENSP00000361471.1:p.Ala293=
ENST00000470849.4:n.604T>C
ENST00000492400.5:n.388T>C
ENST00000493984.6:n.656T>C
NM_000050.4:c.879T>C	NP_000041.2:p.Ala293=
NM_054012.3:c.879T>C	NP_446464.1:p.Ala293=
XM_005272200.2:c.879T>C	XP_005272257.1:p.Ala293=
XM_011518705.1:c.993T>C	XP_011517007.1:p.Ala331=
XM_005272200.3:c.879T>C	XP_005272257.1:p.Ala293=
XM_011518705.2:c.993T>C	XP_011517007.1:p.Ala331=
XM_017014729.1:c.975T>C	XP_016870218.1:p.Ala325=
NM_054012.4:c.879T>C MANE Select	NP_446464.1:p.Ala293=