Canonical Allele Identifier: CA375229469

Gene: ASS1

Linked Data

• gnomAD v4: 9-130480414-T-C
• MyVariant Identifiers: chr9:g.133355801T>C (hg19) ; chr9:g.130480414T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130480414T>C , CM000671.2:g.130480414T>C	GRCh38
NC_000009.11:g.133355801T>C , CM000671.1:g.133355801T>C	GRCh37
NC_000009.10:g.132345622T>C	NCBI36
NG_011542.1:g.40708T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.803T>C MANE Select	ENSP00000253004.6:p.Ile268Thr
ENST00000352480.9:c.803T>C	ENSP00000253004.6:p.Ile268Thr
ENST00000372386.6:n.74T>C
ENST00000372393.7:c.803T>C	ENSP00000361469.2:p.Ile268Thr
ENST00000372394.5:c.803T>C	ENSP00000361471.1:p.Ile268Thr
ENST00000470849.4:n.528T>C
ENST00000492400.5:n.312T>C
ENST00000493984.6:n.580T>C
NM_000050.4:c.803T>C	NP_000041.2:p.Ile268Thr
NM_054012.3:c.803T>C	NP_446464.1:p.Ile268Thr
XM_005272200.2:c.803T>C	XP_005272257.1:p.Ile268Thr
XM_011518705.1:c.917T>C	XP_011517007.1:p.Ile306Thr
XM_005272200.3:c.803T>C	XP_005272257.1:p.Ile268Thr
XM_011518705.2:c.917T>C	XP_011517007.1:p.Ile306Thr
XM_017014729.1:c.899T>C	XP_016870218.1:p.Ile300Thr
NM_054012.4:c.803T>C MANE Select	NP_446464.1:p.Ile268Thr