Canonical Allele Identifier: CA375230474

Gene: ASS1

Linked Data

• MyVariant Identifiers: chr9:g.133364735C>G (hg19) ; chr9:g.130489348C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489348C>G , CM000671.2:g.130489348C>G	GRCh38
NC_000009.11:g.133364735C>G , CM000671.1:g.133364735C>G	GRCh37
NC_000009.10:g.132354556C>G	NCBI36
NG_011542.1:g.49642C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.854C>G MANE Select	ENSP00000253004.6:p.Pro285Arg
ENST00000352480.9:c.854C>G	ENSP00000253004.6:p.Pro285Arg
ENST00000372386.6:n.125C>G
ENST00000372393.7:c.854C>G	ENSP00000361469.2:p.Pro285Arg
ENST00000372394.5:c.854C>G	ENSP00000361471.1:p.Pro285Arg
ENST00000470849.4:n.579C>G
ENST00000492400.5:n.363C>G
ENST00000493984.6:n.631C>G
NM_000050.4:c.854C>G	NP_000041.2:p.Pro285Arg
NM_054012.3:c.854C>G	NP_446464.1:p.Pro285Arg
XM_005272200.2:c.854C>G	XP_005272257.1:p.Pro285Arg
XM_011518705.1:c.968C>G	XP_011517007.1:p.Pro323Arg
XM_005272200.3:c.854C>G	XP_005272257.1:p.Pro285Arg
XM_011518705.2:c.968C>G	XP_011517007.1:p.Pro323Arg
XM_017014729.1:c.950C>G	XP_016870218.1:p.Pro317Arg
NM_054012.4:c.854C>G MANE Select	NP_446464.1:p.Pro285Arg