Canonical Allele Identifier: CA1016322

Gene: DCLRE1B

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113907054A>G , CM000663.2:g.113907054A>G	GRCh38
NC_000001.10:g.114449676A>G , CM000663.1:g.114449676A>G	GRCh37
NC_000001.9:g.114251199A>G	NCBI36
NG_031901.1:g.3066T>C
NG_057565.1:g.7436A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_022836.4:c.248A>G MANE Select	NP_073747.1:p.Asp83Gly
ENST00000650450.2:c.248A>G MANE Select	ENSP00000498042.1:p.Asp83Gly
NM_001319946.2:c.-23-955A>G	NP_001306875.1:n.-23-955A>G
NM_001319947.2:c.-23-955A>G	NP_001306876.1:n.-23-955A>G
NM_001363690.1:c.248A>G	NP_001350619.1:p.Asp83Gly
NM_001363690.2:c.248A>G	NP_001350619.1:p.Asp83Gly
NM_001363691.1:c.-23-955A>G	NP_001350620.1:n.-23-955A>G
NM_001363691.2:c.-23-955A>G	NP_001350620.1:n.-23-955A>G
NM_022836.3:c.248A>G	NP_073747.1:p.Asp83Gly
ENST00000369563.3:c.248A>G	ENSP00000358576.3:p.Asp83Gly
ENST00000466480.1:n.368-955A>G
ENST00000466480.2:c.190-955A>G	ENSP00000497696.1:n.190-955A>G
ENST00000648795.1:c.190-955A>G	ENSP00000497557.1:n.190-955A>G
ENST00000650596.1:c.248A>G	ENSP00000497882.1:p.Asp83Gly
ENST00000697125.1:n.398-955A>G
XM_005271130.2:c.-23-955A>G	XP_005271187.1:n.-23-955A>G