Canonical Allele Identifier: CA16609186

Gene: UBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47211090G>A , CM000685.2:g.47211090G>A	GRCh38
NC_000023.10:g.47070489G>A , CM000685.1:g.47070489G>A	GRCh37
NC_000023.9:g.46955433G>A	NCBI36
NG_009161.1:g.25291G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335972.11:c.2329G>A MANE Select	ENSP00000338413.6:p.Gly777Arg
ENST00000335972.10:c.2329G>A	ENSP00000338413.6:p.Gly777Arg
ENST00000377269.3:c.673G>A	ENSP00000366481.3:p.Gly225Arg
ENST00000377351.8:c.2329G>A	ENSP00000366568.4:p.Gly777Arg
NM_003334.3:c.2329G>A	NP_003325.2:p.Gly777Arg
NM_153280.2:c.2329G>A	NP_695012.1:p.Gly777Arg
XM_005272649.1:c.2347G>A	XP_005272706.1:p.Gly783Arg
XM_005272650.1:c.2329G>A	XP_005272707.1:p.Gly777Arg
XM_011543953.1:c.2413G>A	XP_011542255.1:p.Gly805Arg
XM_011543954.1:c.2371G>A	XP_011542256.1:p.Gly791Arg
XM_011543955.1:c.2347G>A	XP_011542257.1:p.Gly783Arg
XM_011543956.1:c.2329G>A	XP_011542258.1:p.Gly777Arg
XR_949047.1:n.216-5740C>T
XM_011543954.2:c.2371G>A	XP_011542256.1:p.Gly791Arg
XM_017029777.1:c.2482G>A	XP_016885266.1:p.Gly828Arg
XM_017029778.2:c.2413G>A	XP_016885267.1:p.Gly805Arg
XM_017029779.2:c.2347G>A	XP_016885268.1:p.Gly783Arg
XM_017029780.1:c.2329G>A	XP_016885269.1:p.Gly777Arg
XM_017029781.1:c.2329G>A	XP_016885270.1:p.Gly777Arg
XR_949047.3:n.284-5740C>T
NM_003334.4:c.2329G>A MANE Select	NP_003325.2:p.Gly777Arg
NM_153280.3:c.2329G>A	NP_695012.1:p.Gly777Arg