Canonical Allele Identifier: CA375229419

Gene: ASS1

Linked Data

• dbSNP Id: rs1193243645
• gnomAD v2: 9-133355777-A-G
• gnomAD v4: 9-130480390-A-G
• MyVariant Identifiers: chr9:g.133355777A>G (hg19) ; chr9:g.130480390A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130480390A>G , CM000671.2:g.130480390A>G	GRCh38
NC_000009.11:g.133355777A>G , CM000671.1:g.133355777A>G	GRCh37
NC_000009.10:g.132345598A>G	NCBI36
NG_011542.1:g.40684A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.779A>G MANE Select	ENSP00000253004.6:p.Lys260Arg
ENST00000352480.9:c.779A>G	ENSP00000253004.6:p.Lys260Arg
ENST00000372386.6:n.50A>G
ENST00000372393.7:c.779A>G	ENSP00000361469.2:p.Lys260Arg
ENST00000372394.5:c.779A>G	ENSP00000361471.1:p.Lys260Arg
ENST00000470849.4:n.504A>G
ENST00000492400.5:n.288A>G
ENST00000493984.6:n.556A>G
NM_000050.4:c.779A>G	NP_000041.2:p.Lys260Arg
NM_054012.3:c.779A>G	NP_446464.1:p.Lys260Arg
XM_005272200.2:c.779A>G	XP_005272257.1:p.Lys260Arg
XM_011518705.1:c.893A>G	XP_011517007.1:p.Lys298Arg
XM_005272200.3:c.779A>G	XP_005272257.1:p.Lys260Arg
XM_011518705.2:c.893A>G	XP_011517007.1:p.Lys298Arg
XM_017014729.1:c.875A>G	XP_016870218.1:p.Lys292Arg
NM_054012.4:c.779A>G MANE Select	NP_446464.1:p.Lys260Arg