Canonical Allele Identifier: CA1016469

Gene: DCLRE1B

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113911399C>T , CM000663.2:g.113911399C>T	GRCh38
NC_000001.10:g.114454021C>T , CM000663.1:g.114454021C>T	GRCh37
NC_000001.9:g.114255544C>T	NCBI36
NG_057565.1:g.11781C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022836.4:c.807C>T MANE Select	NP_073747.1:p.His269=
ENST00000650450.2:c.807C>T MANE Select	ENSP00000498042.1:p.His269=
NM_001319946.2:c.429C>T	NP_001306875.1:p.His143=
NM_001319947.2:c.429C>T	NP_001306876.1:p.His143=
NM_001363690.1:c.807C>T	NP_001350619.1:p.His269=
NM_001363690.2:c.807C>T	NP_001350619.1:p.His269=
NM_001363691.1:c.429C>T	NP_001350620.1:p.His143=
NM_001363691.2:c.429C>T	NP_001350620.1:p.His143=
NM_022836.3:c.807C>T	NP_073747.1:p.His269=
ENST00000369563.3:c.807C>T	ENSP00000358576.3:p.His269=
ENST00000466480.1:n.819C>T
ENST00000466480.2:c.*422C>T	ENSP00000497696.1:n.*422C>T
ENST00000648795.1:c.*422C>T	ENSP00000497557.1:n.*422C>T
ENST00000650596.1:c.624C>T	ENSP00000497882.1:p.His208=
ENST00000697126.1:n.1215C>T
XM_005271130.2:c.429C>T	XP_005271187.1:p.His143=