Canonical Allele Identifier: CA200612224

Gene: ASS1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_054012.4:c.380G>T MANE Select	NP_446464.1:p.Arg127Leu
ENST00000352480.10:c.380G>T MANE Select	ENSP00000253004.6:p.Arg127Leu
NM_000050.4:c.380G>T	NP_000041.2:p.Arg127Leu
NM_054012.3:c.380G>T	NP_446464.1:p.Arg127Leu
ENST00000352480.9:c.380G>T	ENSP00000253004.6:p.Arg127Leu
ENST00000372393.7:c.380G>T	ENSP00000361469.2:p.Arg127Leu
ENST00000372394.5:c.380G>T	ENSP00000361471.1:p.Arg127Leu
ENST00000422569.5:c.380G>T	ENSP00000394212.1:p.Arg127Leu
ENST00000443588.1:c.364-2598G>T	ENSP00000397785.1:n.364-2598G>T
ENST00000467695.5:n.89G>T
XM_005272200.2:c.380G>T	XP_005272257.1:p.Arg127Leu
XM_005272200.3:c.380G>T	XP_005272257.1:p.Arg127Leu
XM_011518705.1:c.494G>T	XP_011517007.1:p.Arg165Leu
XM_011518705.2:c.494G>T	XP_011517007.1:p.Arg165Leu
XM_017014729.1:c.476G>T	XP_016870218.1:p.Arg159Leu