Canonical Allele Identifier: CA354679384

Gene: DBR1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.138174747A>G , CM000665.2:g.138174747A>G	GRCh38
NC_000003.11:g.137893589A>G , CM000665.1:g.137893589A>G	GRCh37
NC_000003.10:g.139376279A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_016216.4:c.49T>C MANE Select	NP_057300.2:p.Tyr17His
ENST00000260803.9:c.49T>C MANE Select	ENSP00000260803.4:p.Tyr17His
NM_016216.3:c.49T>C	NP_057300.2:p.Tyr17His
ENST00000260803.8:c.49T>C	ENSP00000260803.4:p.Tyr17His
ENST00000463982.2:n.120T>C
ENST00000463982.3:n.195T>C
ENST00000477557.3:c.49T>C	ENSP00000417262.3:p.Tyr17His
ENST00000698922.1:c.49T>C	ENSP00000514033.1:p.Tyr17His
ENST00000698923.1:c.49T>C	ENSP00000514034.1:p.Tyr17His
ENST00000698924.1:c.49T>C	ENSP00000514035.1:p.Tyr17His
ENST00000698925.1:c.49T>C	ENSP00000514036.1:p.Tyr17His