Canonical Allele Identifier: CA354678907

Gene: DBR1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.138173624T>C , CM000665.2:g.138173624T>C	GRCh38
NC_000003.11:g.137892466T>C , CM000665.1:g.137892466T>C	GRCh37
NC_000003.10:g.139375156T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_016216.4:c.200A>G MANE Select	NP_057300.2:p.Tyr67Cys
ENST00000260803.9:c.200A>G MANE Select	ENSP00000260803.4:p.Tyr67Cys
NM_016216.3:c.200A>G	NP_057300.2:p.Tyr67Cys
ENST00000260803.8:c.200A>G	ENSP00000260803.4:p.Tyr67Cys
ENST00000463982.2:n.271A>G
ENST00000463982.3:n.346A>G
ENST00000477557.3:c.200A>G	ENSP00000417262.3:p.Tyr67Cys
ENST00000698921.1:n.366A>G
ENST00000698922.1:c.200A>G	ENSP00000514033.1:p.Tyr67Cys
ENST00000698923.1:c.200A>G	ENSP00000514034.1:p.Tyr67Cys
ENST00000698924.1:c.200A>G	ENSP00000514035.1:p.Tyr67Cys
ENST00000698925.1:c.200A>G	ENSP00000514036.1:p.Tyr67Cys