Canonical Allele Identifier: CA375232218

Gene: ASS1

Linked Data

• ClinVar Variation Id: 847892
• ClinVar RCV Id: RCV001051532
• dbSNP Id: rs121908640
• MyVariant Identifiers: chr9:g.133370370C>G (hg19) ; chr9:g.130494983C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130494983C>G , CM000671.2:g.130494983C>G	GRCh38
NC_000009.11:g.133370370C>G , CM000671.1:g.133370370C>G	GRCh37
NC_000009.10:g.132360191C>G	NCBI36
NG_011542.1:g.55277C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.1087C>G MANE Select	ENSP00000253004.6:p.Arg363Gly
ENST00000352480.9:c.1087C>G	ENSP00000253004.6:p.Arg363Gly
ENST00000372386.6:n.358C>G
ENST00000372393.7:c.1087C>G	ENSP00000361469.2:p.Arg363Gly
ENST00000372394.5:c.1087C>G	ENSP00000361471.1:p.Arg363Gly
NM_000050.4:c.1087C>G	NP_000041.2:p.Arg363Gly
NM_054012.3:c.1087C>G	NP_446464.1:p.Arg363Gly
XM_005272200.2:c.1087C>G	XP_005272257.1:p.Arg363Gly
XM_011518705.1:c.1201C>G	XP_011517007.1:p.Arg401Gly
XR_930393.1:n.1060-2726G>C
XM_005272200.3:c.1087C>G	XP_005272257.1:p.Arg363Gly
XM_011518705.2:c.1201C>G	XP_011517007.1:p.Arg401Gly
XM_017014729.1:c.1183C>G	XP_016870218.1:p.Arg395Gly
XR_930393.2:n.1102-2726G>C
NM_054012.4:c.1087C>G MANE Select	NP_446464.1:p.Arg363Gly