Canonical Allele Identifier: CA1016318

Gene: DCLRE1B

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113907040T>C , CM000663.2:g.113907040T>C	GRCh38
NC_000001.10:g.114449662T>C , CM000663.1:g.114449662T>C	GRCh37
NC_000001.9:g.114251185T>C	NCBI36
NG_031901.1:g.3080A>G
NG_057565.1:g.7422T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_022836.4:c.234T>C MANE Select	NP_073747.1:p.His78=
ENST00000650450.2:c.234T>C MANE Select	ENSP00000498042.1:p.His78=
NM_001319946.2:c.-23-969T>C	NP_001306875.1:n.-23-969T>C
NM_001319947.2:c.-23-969T>C	NP_001306876.1:n.-23-969T>C
NM_001363690.1:c.234T>C	NP_001350619.1:p.His78=
NM_001363690.2:c.234T>C	NP_001350619.1:p.His78=
NM_001363691.1:c.-23-969T>C	NP_001350620.1:n.-23-969T>C
NM_001363691.2:c.-23-969T>C	NP_001350620.1:n.-23-969T>C
NM_022836.3:c.234T>C	NP_073747.1:p.His78=
ENST00000369563.3:c.234T>C	ENSP00000358576.3:p.His78=
ENST00000466480.1:n.368-969T>C
ENST00000466480.2:c.190-969T>C	ENSP00000497696.1:n.190-969T>C
ENST00000648795.1:c.190-969T>C	ENSP00000497557.1:n.190-969T>C
ENST00000650596.1:c.234T>C	ENSP00000497882.1:p.His78=
ENST00000697125.1:n.398-969T>C
XM_005271130.2:c.-23-969T>C	XP_005271187.1:n.-23-969T>C