Canonical Allele Identifier: CA375230604

Gene: ASS1

Linked Data

• gnomAD v4: 9-130489404-C-G
• MyVariant Identifiers: chr9:g.133364791C>G (hg19) ; chr9:g.130489404C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489404C>G , CM000671.2:g.130489404C>G	GRCh38
NC_000009.11:g.133364791C>G , CM000671.1:g.133364791C>G	GRCh37
NC_000009.10:g.132354612C>G	NCBI36
NG_011542.1:g.49698C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.910C>G MANE Select	ENSP00000253004.6:p.Arg304Gly
ENST00000352480.9:c.910C>G	ENSP00000253004.6:p.Arg304Gly
ENST00000372386.6:n.181C>G
ENST00000372393.7:c.910C>G	ENSP00000361469.2:p.Arg304Gly
ENST00000372394.5:c.910C>G	ENSP00000361471.1:p.Arg304Gly
ENST00000470849.4:n.635C>G
ENST00000492400.5:n.419C>G
ENST00000493984.6:n.687C>G
NM_000050.4:c.910C>G	NP_000041.2:p.Arg304Gly
NM_054012.3:c.910C>G	NP_446464.1:p.Arg304Gly
XM_005272200.2:c.910C>G	XP_005272257.1:p.Arg304Gly
XM_011518705.1:c.1024C>G	XP_011517007.1:p.Arg342Gly
XM_005272200.3:c.910C>G	XP_005272257.1:p.Arg304Gly
XM_011518705.2:c.1024C>G	XP_011517007.1:p.Arg342Gly
XM_017014729.1:c.1006C>G	XP_016870218.1:p.Arg336Gly
NM_054012.4:c.910C>G MANE Select	NP_446464.1:p.Arg304Gly