Canonical Allele Identifier: CA412802156

Gene: UBA1

Linked Data

• MyVariant Identifiers: chrX:g.47065495T>A (hg19) ; chrX:g.47206096T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47206096T>A , CM000685.2:g.47206096T>A	GRCh38
NC_000023.10:g.47065495T>A , CM000685.1:g.47065495T>A	GRCh37
NC_000023.9:g.46950439T>A	NCBI36
NG_009161.1:g.20297T>A
NG_021353.1:g.6249T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335972.11:c.1724T>A MANE Select	ENSP00000338413.6:p.Leu575Gln
ENST00000335972.10:c.1724T>A	ENSP00000338413.6:p.Leu575Gln
ENST00000377351.8:c.1724T>A	ENSP00000366568.4:p.Leu575Gln
ENST00000490869.1:n.483T>A
NM_003334.3:c.1724T>A	NP_003325.2:p.Leu575Gln
NM_153280.2:c.1724T>A	NP_695012.1:p.Leu575Gln
XM_005272649.1:c.1742T>A	XP_005272706.1:p.Leu581Gln
XM_005272650.1:c.1724T>A	XP_005272707.1:p.Leu575Gln
XM_011543953.1:c.1808T>A	XP_011542255.1:p.Leu603Gln
XM_011543954.1:c.1766T>A	XP_011542256.1:p.Leu589Gln
XM_011543955.1:c.1742T>A	XP_011542257.1:p.Leu581Gln
XM_011543956.1:c.1724T>A	XP_011542258.1:p.Leu575Gln
XR_949047.1:n.216-746A>T
XM_011543954.2:c.1766T>A	XP_011542256.1:p.Leu589Gln
XM_017029777.1:c.1877T>A	XP_016885266.1:p.Leu626Gln
XM_017029778.2:c.1808T>A	XP_016885267.1:p.Leu603Gln
XM_017029779.2:c.1742T>A	XP_016885268.1:p.Leu581Gln
XM_017029780.1:c.1724T>A	XP_016885269.1:p.Leu575Gln
XM_017029781.1:c.1724T>A	XP_016885270.1:p.Leu575Gln
XR_949047.3:n.284-746A>T
NM_003334.4:c.1724T>A MANE Select	NP_003325.2:p.Leu575Gln
NM_153280.3:c.1724T>A	NP_695012.1:p.Leu575Gln