Canonical Allele Identifier: CA375230483

Gene: ASS1

Linked Data

• gnomAD v4: 9-130489353-G-T
• MyVariant Identifiers: chr9:g.133364740G>T (hg19) ; chr9:g.130489353G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.859G>T MANE Select	ENSP00000253004.6:p.Gly287Cys
ENST00000352480.9:c.859G>T	ENSP00000253004.6:p.Gly287Cys
ENST00000372386.6:n.130G>T
ENST00000372393.7:c.859G>T	ENSP00000361469.2:p.Gly287Cys
ENST00000372394.5:c.859G>T	ENSP00000361471.1:p.Gly287Cys
ENST00000470849.4:n.584G>T
ENST00000492400.5:n.368G>T
ENST00000493984.6:n.636G>T
NM_000050.4:c.859G>T	NP_000041.2:p.Gly287Cys
NM_054012.3:c.859G>T	NP_446464.1:p.Gly287Cys
XM_005272200.2:c.859G>T	XP_005272257.1:p.Gly287Cys
XM_011518705.1:c.973G>T	XP_011517007.1:p.Gly325Cys
XM_005272200.3:c.859G>T	XP_005272257.1:p.Gly287Cys
XM_011518705.2:c.973G>T	XP_011517007.1:p.Gly325Cys
XM_017014729.1:c.955G>T	XP_016870218.1:p.Gly319Cys
NM_054012.4:c.859G>T MANE Select	NP_446464.1:p.Gly287Cys