Canonical Allele Identifier: CA10153016
Gene: UPB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4147
dbSNP Id: rs138081800

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.24500105A>G , CM000684.2:g.24500105A>G GRCh38
NC_000022.10:g.24896073A>G , CM000684.1:g.24896073A>G GRCh37
NC_000022.9:g.23226073A>G NCBI36
NG_012858.1:g.9823A>G
NG_012858.2:g.9823A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000326010.10:c.105-2A>G MANE Select ENSP00000324343.5:n.105-2A>G
ENST00000326010.9:c.105-2A>G ENSP00000324343.5:n.105-2A>G
ENST00000382760.2:c.105-2A>G ENSP00000372208.2:n.105-2A>G
ENST00000415388.5:c.105-2021A>G ENSP00000400684.1:n.105-2021A>G
NM_016327.2:c.105-2A>G NP_057411.1:n.105-2A>G
XM_011530222.1:c.105-2A>G XP_011528524.1:n.105-2A>G
XM_011530223.1:c.105-2A>G XP_011528525.1:n.105-2A>G
XM_011530224.1:c.105-2A>G XP_011528526.1:n.105-2A>G
XM_011530225.1:c.-338-2A>G XP_011528527.1:n.-338-2A>G
XR_937867.1:n.1042-2A>G
XM_011530222.2:c.105-2A>G XP_011528524.1:n.105-2A>G
XM_011530223.2:c.105-2A>G XP_011528525.1:n.105-2A>G
XM_011530224.2:c.105-2A>G XP_011528526.1:n.105-2A>G
XM_011530225.2:c.-338-2A>G XP_011528527.1:n.-338-2A>G
XM_017028825.1:c.105-2A>G XP_016884314.1:n.105-2A>G
XM_017028826.1:c.105-2A>G XP_016884315.1:n.105-2A>G
XM_017028827.2:c.105-2A>G XP_016884316.1:n.105-2A>G
XM_017028828.1:c.105-2A>G XP_016884317.1:n.105-2A>G
XR_001755249.1:n.449-2A>G
XR_001755250.1:n.449-2A>G
XR_937867.2:n.449-2A>G
NM_016327.3:c.105-2A>G MANE Select NP_057411.1:n.105-2A>G