Canonical Allele Identifier: CA2635834

Gene: DBR1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.138167206G>A , CM000665.2:g.138167206G>A	GRCh38
NC_000003.11:g.137886048G>A , CM000665.1:g.137886048G>A	GRCh37
NC_000003.10:g.139368738G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_016216.4:c.589C>T MANE Select	NP_057300.2:p.Arg197Ter
ENST00000260803.9:c.589C>T MANE Select	ENSP00000260803.4:p.Arg197Ter
NM_016216.3:c.589C>T	NP_057300.2:p.Arg197Ter
ENST00000260803.8:c.589C>T	ENSP00000260803.4:p.Arg197Ter
ENST00000477557.3:c.*65C>T	ENSP00000417262.3:n.*65C>T
ENST00000698921.1:n.755C>T
ENST00000698922.1:c.489+2901C>T	ENSP00000514033.1:n.489+2901C>T
ENST00000698923.1:c.589C>T	ENSP00000514034.1:p.Arg197Ter
ENST00000698924.1:c.589C>T	ENSP00000514035.1:p.Arg197Ter
ENST00000698925.1:c.589C>T	ENSP00000514036.1:p.Arg197Ter