Canonical Allele Identifier: CA2427845543
Gene: UBA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47206145G= , CM000685.2:g.47206145G= GRCh38
NC_000023.10:g.47065544G= , CM000685.1:g.47065544G= GRCh37
NC_000023.9:g.46950488G= NCBI36
NG_009161.1:g.20346G=
NG_021353.1:g.6298G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000335972.11:c.1741+32G= MANE Select ENSP00000338413.6:n.1741+32G=
ENST00000335972.10:c.1741+32G= ENSP00000338413.6:n.1741+32G=
ENST00000377351.8:c.1741+32G= ENSP00000366568.4:n.1741+32G=
ENST00000490869.1:n.500+32G=
NM_003334.3:c.1741+32G= NP_003325.2:n.1741+32G=
NM_153280.2:c.1741+32G= NP_695012.1:n.1741+32G=
XM_005272649.1:c.1759+32G= XP_005272706.1:n.1759+32G=
XM_005272650.1:c.1741+32G= XP_005272707.1:n.1741+32G=
XM_011543953.1:c.1825+32G= XP_011542255.1:n.1825+32G=
XM_011543954.1:c.1783+32G= XP_011542256.1:n.1783+32G=
XM_011543955.1:c.1759+32G= XP_011542257.1:n.1759+32G=
XM_011543956.1:c.1741+32G= XP_011542258.1:n.1741+32G=
XR_949047.1:n.216-795C=
XM_011543954.2:c.1783+32G= XP_011542256.1:n.1783+32G=
XM_017029777.1:c.1894+32G= XP_016885266.1:n.1894+32G=
XM_017029778.2:c.1825+32G= XP_016885267.1:n.1825+32G=
XM_017029779.2:c.1759+32G= XP_016885268.1:n.1759+32G=
XM_017029780.1:c.1741+32G= XP_016885269.1:n.1741+32G=
XM_017029781.1:c.1741+32G= XP_016885270.1:n.1741+32G=
XR_949047.3:n.284-795C=
NM_003334.4:c.1741+32G= MANE Select NP_003325.2:n.1741+32G=
NM_153280.3:c.1741+32G= NP_695012.1:n.1741+32G=