Canonical Allele Identifier: CA98787452
Gene: UGT2B10 HGNC NCBI

Linked Data

dbSNP Id: rs557795578
gnomAD v2: 4-69682628-T-C
gnomAD v3: 4-68816910-T-C
gnomAD v4: 4-68816910-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.68816910T>C , CM000666.2:g.68816910T>C GRCh38
NC_000004.11:g.69682628T>C , CM000666.1:g.69682628T>C GRCh37
NC_000004.10:g.69717217T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000265403.12:c.718+173T>C MANE Select ENSP00000265403.7:n.718+173T>C
ENST00000265403.11:c.718+173T>C ENSP00000265403.7:n.718+173T>C
ENST00000458688.2:c.466+425T>C ENSP00000413420.2:n.466+425T>C
NM_001075.5:c.718+173T>C NP_001066.1:n.718+173T>C
NM_001144767.2:c.466+425T>C NP_001138239.1:n.466+425T>C
NM_001290091.1:c.-27+738T>C NP_001277020.1:n.-27+738T>C
XM_017008585.2:c.718+173T>C XP_016864074.1:n.718+173T>C
NM_001075.6:c.718+173T>C MANE Select NP_001066.1:n.718+173T>C
NM_001144767.3:c.466+425T>C NP_001138239.1:n.466+425T>C
NM_001290091.2:c.-27+738T>C NP_001277020.1:n.-27+738T>C