Canonical Allele Identifier: CA10395672

Gene: UBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47199545G>A , CM000685.2:g.47199545G>A	GRCh38
NC_000023.10:g.47058944G>A , CM000685.1:g.47058944G>A	GRCh37
NC_000023.9:g.46943888G>A	NCBI36
NG_009161.1:g.13746G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335972.11:c.411G>A MANE Select	ENSP00000338413.6:p.Glu137=
ENST00000335972.10:c.411G>A	ENSP00000338413.6:p.Glu137=
ENST00000377351.8:c.411G>A	ENSP00000366568.4:p.Glu137=
ENST00000412206.5:c.411G>A	ENSP00000415033.1:p.Glu137=
ENST00000427561.5:c.453G>A	ENSP00000397816.1:p.Glu151=
ENST00000442035.5:c.453G>A	ENSP00000389583.1:p.Glu151=
ENST00000451702.2:c.564G>A	ENSP00000401101.1:p.Glu188=
ENST00000457753.5:c.564G>A	ENSP00000404796.1:p.Glu188=
NM_003334.3:c.411G>A	NP_003325.2:p.Glu137=
NM_153280.2:c.411G>A	NP_695012.1:p.Glu137=
XM_005272649.1:c.429G>A	XP_005272706.1:p.Glu143=
XM_005272650.1:c.411G>A	XP_005272707.1:p.Glu137=
XM_011543953.1:c.495G>A	XP_011542255.1:p.Glu165=
XM_011543954.1:c.453G>A	XP_011542256.1:p.Glu151=
XM_011543955.1:c.429G>A	XP_011542257.1:p.Glu143=
XM_011543956.1:c.411G>A	XP_011542258.1:p.Glu137=
XM_011543954.2:c.453G>A	XP_011542256.1:p.Glu151=
XM_017029777.1:c.564G>A	XP_016885266.1:p.Glu188=
XM_017029778.2:c.495G>A	XP_016885267.1:p.Glu165=
XM_017029779.2:c.429G>A	XP_016885268.1:p.Glu143=
XM_017029780.1:c.411G>A	XP_016885269.1:p.Glu137=
XM_017029781.1:c.411G>A	XP_016885270.1:p.Glu137=
NM_003334.4:c.411G>A MANE Select	NP_003325.2:p.Glu137=
NM_153280.3:c.411G>A	NP_695012.1:p.Glu137=