Canonical Allele Identifier: CA412802130

Gene: UBA1

Linked Data

• MyVariant Identifiers: chrX:g.47065494C>G (hg19) ; chrX:g.47206095C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47206095C>G , CM000685.2:g.47206095C>G	GRCh38
NC_000023.10:g.47065494C>G , CM000685.1:g.47065494C>G	GRCh37
NC_000023.9:g.46950438C>G	NCBI36
NG_009161.1:g.20296C>G
NG_021353.1:g.6248C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335972.11:c.1723C>G MANE Select	ENSP00000338413.6:p.Leu575Val
ENST00000335972.10:c.1723C>G	ENSP00000338413.6:p.Leu575Val
ENST00000377351.8:c.1723C>G	ENSP00000366568.4:p.Leu575Val
ENST00000490869.1:n.482C>G
NM_003334.3:c.1723C>G	NP_003325.2:p.Leu575Val
NM_153280.2:c.1723C>G	NP_695012.1:p.Leu575Val
XM_005272649.1:c.1741C>G	XP_005272706.1:p.Leu581Val
XM_005272650.1:c.1723C>G	XP_005272707.1:p.Leu575Val
XM_011543953.1:c.1807C>G	XP_011542255.1:p.Leu603Val
XM_011543954.1:c.1765C>G	XP_011542256.1:p.Leu589Val
XM_011543955.1:c.1741C>G	XP_011542257.1:p.Leu581Val
XM_011543956.1:c.1723C>G	XP_011542258.1:p.Leu575Val
XR_949047.1:n.216-745G>C
XM_011543954.2:c.1765C>G	XP_011542256.1:p.Leu589Val
XM_017029777.1:c.1876C>G	XP_016885266.1:p.Leu626Val
XM_017029778.2:c.1807C>G	XP_016885267.1:p.Leu603Val
XM_017029779.2:c.1741C>G	XP_016885268.1:p.Leu581Val
XM_017029780.1:c.1723C>G	XP_016885269.1:p.Leu575Val
XM_017029781.1:c.1723C>G	XP_016885270.1:p.Leu575Val
XR_949047.3:n.284-745G>C
NM_003334.4:c.1723C>G MANE Select	NP_003325.2:p.Leu575Val
NM_153280.3:c.1723C>G	NP_695012.1:p.Leu575Val