Canonical Allele Identifier: CA375226387

Gene: ASS1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130466735C>G , CM000671.2:g.130466735C>G	GRCh38
NC_000009.11:g.133342122C>G , CM000671.1:g.133342122C>G	GRCh37
NC_000009.10:g.132331943C>G	NCBI36
NG_011542.1:g.27029C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_054012.4:c.431C>G MANE Select	NP_446464.1:p.Pro144Arg
ENST00000352480.10:c.431C>G MANE Select	ENSP00000253004.6:p.Pro144Arg
NM_000050.4:c.431C>G	NP_000041.2:p.Pro144Arg
NM_054012.3:c.431C>G	NP_446464.1:p.Pro144Arg
ENST00000352480.9:c.431C>G	ENSP00000253004.6:p.Pro144Arg
ENST00000372393.7:c.431C>G	ENSP00000361469.2:p.Pro144Arg
ENST00000372394.5:c.431C>G	ENSP00000361471.1:p.Pro144Arg
ENST00000422569.5:c.431C>G	ENSP00000394212.1:p.Pro144Arg
ENST00000443588.1:c.374C>G	ENSP00000397785.1:p.Pro125Arg
ENST00000467695.5:n.140C>G
ENST00000493984.6:n.262C>G
XM_005272200.2:c.431C>G	XP_005272257.1:p.Pro144Arg
XM_005272200.3:c.431C>G	XP_005272257.1:p.Pro144Arg
XM_011518705.1:c.545C>G	XP_011517007.1:p.Pro182Arg
XM_011518705.2:c.545C>G	XP_011517007.1:p.Pro182Arg
XM_017014729.1:c.527C>G	XP_016870218.1:p.Pro176Arg