Canonical Allele Identifier: CA467385615

Gene: ASS1

Linked Data

• ClinVar Variation Id: 2101318
• ClinVar RCV Id: RCV003016845
• MyVariant Identifiers: chr9:g.133364763T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489376T>C , CM000671.2:g.130489376T>C	GRCh38
NC_000009.11:g.133364763T>C , CM000671.1:g.133364763T>C	GRCh37
NC_000009.10:g.132354584T>C	NCBI36
NG_011542.1:g.49670T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.882T>C MANE Select	ENSP00000253004.6:p.His294=
ENST00000352480.9:c.882T>C	ENSP00000253004.6:p.His294=
ENST00000372386.6:n.153T>C
ENST00000372393.7:c.882T>C	ENSP00000361469.2:p.His294=
ENST00000372394.5:c.882T>C	ENSP00000361471.1:p.His294=
ENST00000470849.4:n.607T>C
ENST00000492400.5:n.391T>C
ENST00000493984.6:n.659T>C
NM_000050.4:c.882T>C	NP_000041.2:p.His294=
NM_054012.3:c.882T>C	NP_446464.1:p.His294=
XM_005272200.2:c.882T>C	XP_005272257.1:p.His294=
XM_011518705.1:c.996T>C	XP_011517007.1:p.His332=
XM_005272200.3:c.882T>C	XP_005272257.1:p.His294=
XM_011518705.2:c.996T>C	XP_011517007.1:p.His332=
XM_017014729.1:c.978T>C	XP_016870218.1:p.His326=
NM_054012.4:c.882T>C MANE Select	NP_446464.1:p.His294=