Canonical Allele Identifier: CA2427845513

Gene: UBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47206043G= , CM000685.2:g.47206043G=	GRCh38
NC_000023.10:g.47065442G= , CM000685.1:g.47065442G=	GRCh37
NC_000023.9:g.46950386G=	NCBI36
NG_009161.1:g.20244G=
NG_021353.1:g.6196G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335972.11:c.1671G= MANE Select	ENSP00000338413.6:p.Glu557=
ENST00000335972.10:c.1671G=	ENSP00000338413.6:p.Glu557=
ENST00000377351.8:c.1671G=	ENSP00000366568.4:p.Glu557=
ENST00000490869.1:n.465-35G=
NM_003334.3:c.1671G=	NP_003325.2:p.Glu557=
NM_153280.2:c.1671G=	NP_695012.1:p.Glu557=
XM_005272649.1:c.1689G=	XP_005272706.1:p.Glu563=
XM_005272650.1:c.1671G=	XP_005272707.1:p.Glu557=
XM_011543953.1:c.1755G=	XP_011542255.1:p.Glu585=
XM_011543954.1:c.1713G=	XP_011542256.1:p.Glu571=
XM_011543955.1:c.1689G=	XP_011542257.1:p.Glu563=
XM_011543956.1:c.1671G=	XP_011542258.1:p.Glu557=
XR_949047.1:n.216-693C=
XM_011543954.2:c.1713G=	XP_011542256.1:p.Glu571=
XM_017029777.1:c.1824G=	XP_016885266.1:p.Glu608=
XM_017029778.2:c.1755G=	XP_016885267.1:p.Glu585=
XM_017029779.2:c.1689G=	XP_016885268.1:p.Glu563=
XM_017029780.1:c.1671G=	XP_016885269.1:p.Glu557=
XM_017029781.1:c.1671G=	XP_016885270.1:p.Glu557=
XR_949047.3:n.284-693C=
NM_003334.4:c.1671G= MANE Select	NP_003325.2:p.Glu557=
NM_153280.3:c.1671G=	NP_695012.1:p.Glu557=