Canonical Allele Identifier: CA641900377
Gene: UBA1 HGNC NCBI

Linked Data

dbSNP Id: rs1556790876
gnomAD v2: X-47065534-G-A
gnomAD v4: X-47206135-G-A
MyVariant Identifiers: chrX:g.47065534G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47206135G>A , CM000685.2:g.47206135G>A GRCh38
NC_000023.10:g.47065534G>A , CM000685.1:g.47065534G>A GRCh37
NC_000023.9:g.46950478G>A NCBI36
NG_009161.1:g.20336G>A
NG_021353.1:g.6288G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000335972.11:c.1741+22G>A MANE Select ENSP00000338413.6:n.1741+22G>A
ENST00000335972.10:c.1741+22G>A ENSP00000338413.6:n.1741+22G>A
ENST00000377351.8:c.1741+22G>A ENSP00000366568.4:n.1741+22G>A
ENST00000490869.1:n.500+22G>A
NM_003334.3:c.1741+22G>A NP_003325.2:n.1741+22G>A
NM_153280.2:c.1741+22G>A NP_695012.1:n.1741+22G>A
XM_005272649.1:c.1759+22G>A XP_005272706.1:n.1759+22G>A
XM_005272650.1:c.1741+22G>A XP_005272707.1:n.1741+22G>A
XM_011543953.1:c.1825+22G>A XP_011542255.1:n.1825+22G>A
XM_011543954.1:c.1783+22G>A XP_011542256.1:n.1783+22G>A
XM_011543955.1:c.1759+22G>A XP_011542257.1:n.1759+22G>A
XM_011543956.1:c.1741+22G>A XP_011542258.1:n.1741+22G>A
XR_949047.1:n.216-785C>T
XM_011543954.2:c.1783+22G>A XP_011542256.1:n.1783+22G>A
XM_017029777.1:c.1894+22G>A XP_016885266.1:n.1894+22G>A
XM_017029778.2:c.1825+22G>A XP_016885267.1:n.1825+22G>A
XM_017029779.2:c.1759+22G>A XP_016885268.1:n.1759+22G>A
XM_017029780.1:c.1741+22G>A XP_016885269.1:n.1741+22G>A
XM_017029781.1:c.1741+22G>A XP_016885270.1:n.1741+22G>A
XR_949047.3:n.284-785C>T
NM_003334.4:c.1741+22G>A MANE Select NP_003325.2:n.1741+22G>A
NM_153280.3:c.1741+22G>A NP_695012.1:n.1741+22G>A