Canonical Allele Identifier: CA375230508

Gene: ASS1

Linked Data

• ClinVar Variation Id: 1937508
• ClinVar RCV Id: RCV002642831
• MyVariant Identifiers: chr9:g.133364752T>C (hg19) ; chr9:g.130489365T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489365T>C , CM000671.2:g.130489365T>C	GRCh38
NC_000009.11:g.133364752T>C , CM000671.1:g.133364752T>C	GRCh37
NC_000009.10:g.132354573T>C	NCBI36
NG_011542.1:g.49659T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.871T>C MANE Select	ENSP00000253004.6:p.Tyr291His
ENST00000352480.9:c.871T>C	ENSP00000253004.6:p.Tyr291His
ENST00000372386.6:n.142T>C
ENST00000372393.7:c.871T>C	ENSP00000361469.2:p.Tyr291His
ENST00000372394.5:c.871T>C	ENSP00000361471.1:p.Tyr291His
ENST00000470849.4:n.596T>C
ENST00000492400.5:n.380T>C
ENST00000493984.6:n.648T>C
NM_000050.4:c.871T>C	NP_000041.2:p.Tyr291His
NM_054012.3:c.871T>C	NP_446464.1:p.Tyr291His
XM_005272200.2:c.871T>C	XP_005272257.1:p.Tyr291His
XM_011518705.1:c.985T>C	XP_011517007.1:p.Tyr329His
XM_005272200.3:c.871T>C	XP_005272257.1:p.Tyr291His
XM_011518705.2:c.985T>C	XP_011517007.1:p.Tyr329His
XM_017014729.1:c.967T>C	XP_016870218.1:p.Tyr323His
NM_054012.4:c.871T>C MANE Select	NP_446464.1:p.Tyr291His