Canonical Allele Identifier: CA1016286
Gene: DCLRE1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.113905767C>T , CM000663.2:g.113905767C>T GRCh38
NC_000001.10:g.114448389C>T , CM000663.1:g.114448389C>T GRCh37
NC_000001.9:g.114249912C>T NCBI36
NG_031901.1:g.4353G>A
NG_057565.1:g.6149C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697125.1:n.389C>T
ENST00000466480.2:c.181C>T ENSP00000497696.1:p.His61Tyr
ENST00000648795.1:c.181C>T ENSP00000497557.1:p.His61Tyr
ENST00000650450.2:c.181C>T MANE Select ENSP00000498042.1:p.His61Tyr
ENST00000650596.1:c.181C>T ENSP00000497882.1:p.His61Tyr
ENST00000369563.3:c.181C>T ENSP00000358576.3:p.His61Tyr
ENST00000466480.1:n.359C>T
NM_022836.3:c.181C>T NP_073747.1:p.His61Tyr
XM_005271130.2:c.-32C>T XP_005271187.1:n.-32C>T
NM_001319946.2:c.-32C>T NP_001306875.1:n.-32C>T
NM_001319947.2:c.-32C>T NP_001306876.1:n.-32C>T
NM_001363690.1:c.181C>T NP_001350619.1:p.His61Tyr
NM_001363691.1:c.-32C>T NP_001350620.1:n.-32C>T
NM_022836.4:c.181C>T MANE Select NP_073747.1:p.His61Tyr
NM_001363690.2:c.181C>T NP_001350619.1:p.His61Tyr
NM_001363691.2:c.-32C>T NP_001350620.1:n.-32C>T