Canonical Allele Identifier: CA375231775

Gene: ASS1

Linked Data

• ClinVar Variation Id: 458676
• ClinVar RCV Id: RCV002231278 ; RCV003459204
• dbSNP Id: rs1554725034
• gnomAD v4: 9-130494867-G-T
• MyVariant Identifiers: chr9:g.133370254G>T (hg19) ; chr9:g.130494867G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130494867G>T , CM000671.2:g.130494867G>T	GRCh38
NC_000009.11:g.133370254G>T , CM000671.1:g.133370254G>T	GRCh37
NC_000009.10:g.132360075G>T	NCBI36
NG_011542.1:g.55161G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.971G>T MANE Select	ENSP00000253004.6:p.Gly324Val
ENST00000352480.9:c.971G>T	ENSP00000253004.6:p.Gly324Val
ENST00000372386.6:n.242G>T
ENST00000372393.7:c.971G>T	ENSP00000361469.2:p.Gly324Val
ENST00000372394.5:c.971G>T	ENSP00000361471.1:p.Gly324Val
NM_000050.4:c.971G>T	NP_000041.2:p.Gly324Val
NM_054012.3:c.971G>T	NP_446464.1:p.Gly324Val
XM_005272200.2:c.971G>T	XP_005272257.1:p.Gly324Val
XM_011518705.1:c.1085G>T	XP_011517007.1:p.Gly362Val
XR_930393.1:n.1060-2610C>A
XM_005272200.3:c.971G>T	XP_005272257.1:p.Gly324Val
XM_011518705.2:c.1085G>T	XP_011517007.1:p.Gly362Val
XM_017014729.1:c.1067G>T	XP_016870218.1:p.Gly356Val
XR_930393.2:n.1102-2610C>A
NM_054012.4:c.971G>T MANE Select	NP_446464.1:p.Gly324Val