Canonical Allele Identifier: CA98787433
Gene: UGT2B10 HGNC NCBI

Linked Data

dbSNP Id: rs569178464
gnomAD v2: 4-69682593-C-T
gnomAD v3: 4-68816875-C-T
gnomAD v4: 4-68816875-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.68816875C>T , CM000666.2:g.68816875C>T GRCh38
NC_000004.11:g.69682593C>T , CM000666.1:g.69682593C>T GRCh37
NC_000004.10:g.69717182C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000265403.12:c.718+138C>T MANE Select ENSP00000265403.7:n.718+138C>T
ENST00000265403.11:c.718+138C>T ENSP00000265403.7:n.718+138C>T
ENST00000458688.2:c.466+390C>T ENSP00000413420.2:n.466+390C>T
NM_001075.5:c.718+138C>T NP_001066.1:n.718+138C>T
NM_001144767.2:c.466+390C>T NP_001138239.1:n.466+390C>T
NM_001290091.1:c.-27+703C>T NP_001277020.1:n.-27+703C>T
XM_017008585.2:c.718+138C>T XP_016864074.1:n.718+138C>T
NM_001075.6:c.718+138C>T MANE Select NP_001066.1:n.718+138C>T
NM_001144767.3:c.466+390C>T NP_001138239.1:n.466+390C>T
NM_001290091.2:c.-27+703C>T NP_001277020.1:n.-27+703C>T