Canonical Allele Identifier: CA10016097

Gene: DOP1B

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.36212008C>A , CM000683.2:g.36212008C>A	GRCh38
NC_000021.8:g.37584306C>A , CM000683.1:g.37584306C>A	GRCh37
NC_000021.7:g.36506176C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001320714.2:c.815C>A MANE Select	NP_001307643.1:p.Ser272Tyr
ENST00000691173.1:c.815C>A MANE Select	ENSP00000509598.1:p.Ser272Tyr
NM_001320714.1:c.815C>A	NP_001307643.1:p.Ser272Tyr
NM_005128.3:c.815C>A	NP_005119.2:p.Ser272Tyr
NM_005128.4:c.815C>A	NP_005119.2:p.Ser272Tyr
ENST00000399151.3:c.815C>A	ENSP00000382104.3:p.Ser272Tyr
ENST00000492760.1:n.360C>A
ENST00000685394.1:c.815C>A	ENSP00000510500.1:p.Ser272Tyr
ENST00000693273.1:c.815C>A	ENSP00000510799.1:p.Ser272Tyr
XM_006724068.1:c.815C>A	XP_006724131.1:p.Ser272Tyr
XM_017028509.1:c.161C>A	XP_016883998.1:p.Ser54Tyr
XR_001754923.2:n.1004C>A
XR_937581.1:n.1000C>A
XR_937581.3:n.1003C>A
XR_937582.1:n.1002C>A