Canonical Allele Identifier: CA2427845521

Gene: UBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47206074C= , CM000685.2:g.47206074C=	GRCh38
NC_000023.10:g.47065473C= , CM000685.1:g.47065473C=	GRCh37
NC_000023.9:g.46950417C=	NCBI36
NG_009161.1:g.20275C=
NG_021353.1:g.6227C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335972.11:c.1702C= MANE Select	ENSP00000338413.6:p.Leu568=
ENST00000335972.10:c.1702C=	ENSP00000338413.6:p.Leu568=
ENST00000377351.8:c.1702C=	ENSP00000366568.4:p.Leu568=
ENST00000490869.1:n.465-4C=
NM_003334.3:c.1702C=	NP_003325.2:p.Leu568=
NM_153280.2:c.1702C=	NP_695012.1:p.Leu568=
XM_005272649.1:c.1720C=	XP_005272706.1:p.Leu574=
XM_005272650.1:c.1702C=	XP_005272707.1:p.Leu568=
XM_011543953.1:c.1786C=	XP_011542255.1:p.Leu596=
XM_011543954.1:c.1744C=	XP_011542256.1:p.Leu582=
XM_011543955.1:c.1720C=	XP_011542257.1:p.Leu574=
XM_011543956.1:c.1702C=	XP_011542258.1:p.Leu568=
XR_949047.1:n.216-724G=
XM_011543954.2:c.1744C=	XP_011542256.1:p.Leu582=
XM_017029777.1:c.1855C=	XP_016885266.1:p.Leu619=
XM_017029778.2:c.1786C=	XP_016885267.1:p.Leu596=
XM_017029779.2:c.1720C=	XP_016885268.1:p.Leu574=
XM_017029780.1:c.1702C=	XP_016885269.1:p.Leu568=
XM_017029781.1:c.1702C=	XP_016885270.1:p.Leu568=
XR_949047.3:n.284-724G=
NM_003334.4:c.1702C= MANE Select	NP_003325.2:p.Leu568=
NM_153280.3:c.1702C=	NP_695012.1:p.Leu568=