Canonical Allele Identifier: CA5283261

Gene: ASS1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130464127G>A , CM000671.2:g.130464127G>A	GRCh38
NC_000009.11:g.133339514G>A , CM000671.1:g.133339514G>A	GRCh37
NC_000009.10:g.132329335G>A	NCBI36
NG_011542.1:g.24421G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_054012.4:c.380G>A MANE Select	NP_446464.1:p.Arg127Gln
ENST00000352480.10:c.380G>A MANE Select	ENSP00000253004.6:p.Arg127Gln
NM_000050.4:c.380G>A	NP_000041.2:p.Arg127Gln
NM_054012.3:c.380G>A	NP_446464.1:p.Arg127Gln
ENST00000352480.9:c.380G>A	ENSP00000253004.6:p.Arg127Gln
ENST00000372393.7:c.380G>A	ENSP00000361469.2:p.Arg127Gln
ENST00000372394.5:c.380G>A	ENSP00000361471.1:p.Arg127Gln
ENST00000422569.5:c.380G>A	ENSP00000394212.1:p.Arg127Gln
ENST00000443588.1:c.364-2598G>A	ENSP00000397785.1:n.364-2598G>A
ENST00000467695.5:n.89G>A
XM_005272200.2:c.380G>A	XP_005272257.1:p.Arg127Gln
XM_005272200.3:c.380G>A	XP_005272257.1:p.Arg127Gln
XM_011518705.1:c.494G>A	XP_011517007.1:p.Arg165Gln
XM_011518705.2:c.494G>A	XP_011517007.1:p.Arg165Gln
XM_017014729.1:c.476G>A	XP_016870218.1:p.Arg159Gln