Canonical Allele Identifier: CA375230482

Gene: ASS1

Linked Data

• dbSNP Id: rs1237139147
• gnomAD v2: 9-133364740-G-A
• gnomAD v4: 9-130489353-G-A
• MyVariant Identifiers: chr9:g.133364740G>A (hg19) ; chr9:g.130489353G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489353G>A , CM000671.2:g.130489353G>A	GRCh38
NC_000009.11:g.133364740G>A , CM000671.1:g.133364740G>A	GRCh37
NC_000009.10:g.132354561G>A	NCBI36
NG_011542.1:g.49647G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.859G>A MANE Select	ENSP00000253004.6:p.Gly287Ser
ENST00000352480.9:c.859G>A	ENSP00000253004.6:p.Gly287Ser
ENST00000372386.6:n.130G>A
ENST00000372393.7:c.859G>A	ENSP00000361469.2:p.Gly287Ser
ENST00000372394.5:c.859G>A	ENSP00000361471.1:p.Gly287Ser
ENST00000470849.4:n.584G>A
ENST00000492400.5:n.368G>A
ENST00000493984.6:n.636G>A
NM_000050.4:c.859G>A	NP_000041.2:p.Gly287Ser
NM_054012.3:c.859G>A	NP_446464.1:p.Gly287Ser
XM_005272200.2:c.859G>A	XP_005272257.1:p.Gly287Ser
XM_011518705.1:c.973G>A	XP_011517007.1:p.Gly325Ser
XM_005272200.3:c.859G>A	XP_005272257.1:p.Gly287Ser
XM_011518705.2:c.973G>A	XP_011517007.1:p.Gly325Ser
XM_017014729.1:c.955G>A	XP_016870218.1:p.Gly319Ser
NM_054012.4:c.859G>A MANE Select	NP_446464.1:p.Gly287Ser