Canonical Allele Identifier: CA2427845575
Gene: UBA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47206226T= , CM000685.2:g.47206226T= GRCh38
NC_000023.10:g.47065625T= , CM000685.1:g.47065625T= GRCh37
NC_000023.9:g.46950569T= NCBI36
NG_009161.1:g.20427T=
NG_021353.1:g.6379T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000335972.11:c.1742-22T= MANE Select ENSP00000338413.6:n.1742-22T=
ENST00000335972.10:c.1742-22T= ENSP00000338413.6:n.1742-22T=
ENST00000377351.8:c.1742-22T= ENSP00000366568.4:n.1742-22T=
ENST00000490869.1:n.501-22T=
NM_003334.3:c.1742-22T= NP_003325.2:n.1742-22T=
NM_153280.2:c.1742-22T= NP_695012.1:n.1742-22T=
XM_005272649.1:c.1760-22T= XP_005272706.1:n.1760-22T=
XM_005272650.1:c.1742-22T= XP_005272707.1:n.1742-22T=
XM_011543953.1:c.1826-22T= XP_011542255.1:n.1826-22T=
XM_011543954.1:c.1784-22T= XP_011542256.1:n.1784-22T=
XM_011543955.1:c.1760-22T= XP_011542257.1:n.1760-22T=
XM_011543956.1:c.1742-22T= XP_011542258.1:n.1742-22T=
XR_949047.1:n.216-876A=
XM_011543954.2:c.1784-22T= XP_011542256.1:n.1784-22T=
XM_017029777.1:c.1895-22T= XP_016885266.1:n.1895-22T=
XM_017029778.2:c.1826-22T= XP_016885267.1:n.1826-22T=
XM_017029779.2:c.1760-22T= XP_016885268.1:n.1760-22T=
XM_017029780.1:c.1742-22T= XP_016885269.1:n.1742-22T=
XM_017029781.1:c.1742-22T= XP_016885270.1:n.1742-22T=
XR_949047.3:n.284-876A=
NM_003334.4:c.1742-22T= MANE Select NP_003325.2:n.1742-22T=
NM_153280.3:c.1742-22T= NP_695012.1:n.1742-22T=