Canonical Allele Identifier: CA375230447

Gene: ASS1

Linked Data

• MyVariant Identifiers: chr9:g.133364723T>C (hg19) ; chr9:g.130489336T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489336T>C , CM000671.2:g.130489336T>C	GRCh38
NC_000009.11:g.133364723T>C , CM000671.1:g.133364723T>C	GRCh37
NC_000009.10:g.132354544T>C	NCBI36
NG_011542.1:g.49630T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.842T>C MANE Select	ENSP00000253004.6:p.Ile281Thr
ENST00000352480.9:c.842T>C	ENSP00000253004.6:p.Ile281Thr
ENST00000372386.6:n.113T>C
ENST00000372393.7:c.842T>C	ENSP00000361469.2:p.Ile281Thr
ENST00000372394.5:c.842T>C	ENSP00000361471.1:p.Ile281Thr
ENST00000470849.4:n.567T>C
ENST00000492400.5:n.351T>C
ENST00000493984.6:n.619T>C
NM_000050.4:c.842T>C	NP_000041.2:p.Ile281Thr
NM_054012.3:c.842T>C	NP_446464.1:p.Ile281Thr
XM_005272200.2:c.842T>C	XP_005272257.1:p.Ile281Thr
XM_011518705.1:c.956T>C	XP_011517007.1:p.Ile319Thr
XM_005272200.3:c.842T>C	XP_005272257.1:p.Ile281Thr
XM_011518705.2:c.956T>C	XP_011517007.1:p.Ile319Thr
XM_017014729.1:c.938T>C	XP_016870218.1:p.Ile313Thr
NM_054012.4:c.842T>C MANE Select	NP_446464.1:p.Ile281Thr