Canonical Allele Identifier: CA375230750

Gene: ASS1

Linked Data

• ClinVar Variation Id: 1355373
• ClinVar RCV Id: RCV001888022
• dbSNP Id: rs2118864334
• MyVariant Identifiers: chr9:g.133364825T>A (hg19) ; chr9:g.130489438T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489438T>A , CM000671.2:g.130489438T>A	GRCh38
NC_000009.11:g.133364825T>A , CM000671.1:g.133364825T>A	GRCh37
NC_000009.10:g.132354646T>A	NCBI36
NG_011542.1:g.49732T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.944T>A MANE Select	ENSP00000253004.6:p.Leu315Ter
ENST00000352480.9:c.944T>A	ENSP00000253004.6:p.Leu315Ter
ENST00000372386.6:n.215T>A
ENST00000372393.7:c.944T>A	ENSP00000361469.2:p.Leu315Ter
ENST00000372394.5:c.944T>A	ENSP00000361471.1:p.Leu315Ter
NM_000050.4:c.944T>A	NP_000041.2:p.Leu315Ter
NM_054012.3:c.944T>A	NP_446464.1:p.Leu315Ter
XM_005272200.2:c.944T>A	XP_005272257.1:p.Leu315Ter
XM_011518705.1:c.1058T>A	XP_011517007.1:p.Leu353Ter
XM_005272200.3:c.944T>A	XP_005272257.1:p.Leu315Ter
XM_011518705.2:c.1058T>A	XP_011517007.1:p.Leu353Ter
XM_017014729.1:c.1040T>A	XP_016870218.1:p.Leu347Ter
NM_054012.4:c.944T>A MANE Select	NP_446464.1:p.Leu315Ter