Canonical Allele Identifier: CA375229508

Gene: ASS1

Linked Data

• dbSNP Id: rs1846141878
• gnomAD v3: 9-130480433-T-G
• gnomAD v4: 9-130480433-T-G
• MyVariant Identifiers: chr9:g.133355820T>G (hg19) ; chr9:g.130480433T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130480433T>G , CM000671.2:g.130480433T>G	GRCh38
NC_000009.11:g.133355820T>G , CM000671.1:g.133355820T>G	GRCh37
NC_000009.10:g.132345641T>G	NCBI36
NG_011542.1:g.40727T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.822T>G MANE Select	ENSP00000253004.6:p.Ile274Met
ENST00000352480.9:c.822T>G	ENSP00000253004.6:p.Ile274Met
ENST00000372386.6:n.93T>G
ENST00000372393.7:c.822T>G	ENSP00000361469.2:p.Ile274Met
ENST00000372394.5:c.822T>G	ENSP00000361471.1:p.Ile274Met
ENST00000470849.4:n.547T>G
ENST00000492400.5:n.331T>G
ENST00000493984.6:n.599T>G
NM_000050.4:c.822T>G	NP_000041.2:p.Ile274Met
NM_054012.3:c.822T>G	NP_446464.1:p.Ile274Met
XM_005272200.2:c.822T>G	XP_005272257.1:p.Ile274Met
XM_011518705.1:c.936T>G	XP_011517007.1:p.Ile312Met
XM_005272200.3:c.822T>G	XP_005272257.1:p.Ile274Met
XM_011518705.2:c.936T>G	XP_011517007.1:p.Ile312Met
XM_017014729.1:c.918T>G	XP_016870218.1:p.Ile306Met
NM_054012.4:c.822T>G MANE Select	NP_446464.1:p.Ile274Met