Canonical Allele Identifier: CA375229502

Gene: ASS1

Linked Data

• MyVariant Identifiers: chr9:g.133355818A>C (hg19) ; chr9:g.130480431A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130480431A>C , CM000671.2:g.130480431A>C	GRCh38
NC_000009.11:g.133355818A>C , CM000671.1:g.133355818A>C	GRCh37
NC_000009.10:g.132345639A>C	NCBI36
NG_011542.1:g.40725A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.820A>C MANE Select	ENSP00000253004.6:p.Ile274Leu
ENST00000352480.9:c.820A>C	ENSP00000253004.6:p.Ile274Leu
ENST00000372386.6:n.91A>C
ENST00000372393.7:c.820A>C	ENSP00000361469.2:p.Ile274Leu
ENST00000372394.5:c.820A>C	ENSP00000361471.1:p.Ile274Leu
ENST00000470849.4:n.545A>C
ENST00000492400.5:n.329A>C
ENST00000493984.6:n.597A>C
NM_000050.4:c.820A>C	NP_000041.2:p.Ile274Leu
NM_054012.3:c.820A>C	NP_446464.1:p.Ile274Leu
XM_005272200.2:c.820A>C	XP_005272257.1:p.Ile274Leu
XM_011518705.1:c.934A>C	XP_011517007.1:p.Ile312Leu
XM_005272200.3:c.820A>C	XP_005272257.1:p.Ile274Leu
XM_011518705.2:c.934A>C	XP_011517007.1:p.Ile312Leu
XM_017014729.1:c.916A>C	XP_016870218.1:p.Ile306Leu
NM_054012.4:c.820A>C MANE Select	NP_446464.1:p.Ile274Leu