Canonical Allele Identifier: CA340953
Gene: UBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9781
ClinVar RCV Id: RCV000010435
dbSNP Id: rs80356546
MyVariant Identifiers: chrX:g.47065410A>G (hg19) chrX:g.47206011A>G (hg38)
PubMed: PMID:18179898 PMID:20301739
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47206011A>G , CM000685.2:g.47206011A>G GRCh38
NC_000023.10:g.47065410A>G , CM000685.1:g.47065410A>G GRCh37
NC_000023.9:g.46950354A>G NCBI36
NG_009161.1:g.20212A>G
NG_021353.1:g.6164A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000335972.11:c.1639A>G MANE Select ENSP00000338413.6:p.Ser547Gly
ENST00000335972.10:c.1639A>G ENSP00000338413.6:p.Ser547Gly
ENST00000377351.8:c.1639A>G ENSP00000366568.4:p.Ser547Gly
ENST00000490869.1:n.465-67A>G
NM_003334.3:c.1639A>G NP_003325.2:p.Ser547Gly
NM_153280.2:c.1639A>G NP_695012.1:p.Ser547Gly
XM_005272649.1:c.1657A>G XP_005272706.1:p.Ser553Gly
XM_005272650.1:c.1639A>G XP_005272707.1:p.Ser547Gly
XM_011543953.1:c.1723A>G XP_011542255.1:p.Ser575Gly
XM_011543954.1:c.1681A>G XP_011542256.1:p.Ser561Gly
XM_011543955.1:c.1657A>G XP_011542257.1:p.Ser553Gly
XM_011543956.1:c.1639A>G XP_011542258.1:p.Ser547Gly
XR_949047.1:n.216-661T>C
XM_011543954.2:c.1681A>G XP_011542256.1:p.Ser561Gly
XM_017029777.1:c.1792A>G XP_016885266.1:p.Ser598Gly
XM_017029778.2:c.1723A>G XP_016885267.1:p.Ser575Gly
XM_017029779.2:c.1657A>G XP_016885268.1:p.Ser553Gly
XM_017029780.1:c.1639A>G XP_016885269.1:p.Ser547Gly
XM_017029781.1:c.1639A>G XP_016885270.1:p.Ser547Gly
XR_949047.3:n.284-661T>C
NM_003334.4:c.1639A>G MANE Select NP_003325.2:p.Ser547Gly
NM_153280.3:c.1639A>G NP_695012.1:p.Ser547Gly
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