Canonical Allele Identifier: CA1347655605

Gene: BTD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601854G= , CM000665.2:g.15601854G=	GRCh38
NC_000003.11:g.15643361G= , CM000665.1:g.15643361G=	GRCh37
NC_000003.10:g.15618365G=	NCBI36
NG_008019.1:g.5107G=
NG_008019.2:g.5503G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000671928.2:c.-57G=	ENSP00000500069.2:n.-57G=
ENST00000672892.2:c.-57G=	ENSP00000499944.2:n.-57G=
ENST00000303498.10:c.-333G=	ENSP00000306477.6:n.-333G=
ENST00000417015.3:c.-57G=	ENSP00000403775.3:n.-57G=
ENST00000427382.2:c.-17+207G=	ENSP00000397113.2:n.-17+207G=
ENST00000437172.6:c.-245G=	ENSP00000400995.2:n.-245G=
ENST00000449107.7:c.-17+84G=	ENSP00000388212.2:n.-17+84G=
ENST00000467027.6:n.91G=
ENST00000643237.3:c.-57G= MANE Select	ENSP00000495254.2:n.-57G=
ENST00000646371.1:c.-293+84G=	ENSP00000495866.1:n.-293+84G=
ENST00000672065.1:c.4G=	ENSP00000500403.1:p.Ala2=
ENST00000672112.1:c.-179G=	ENSP00000500193.1:n.-179G=
ENST00000672141.1:c.-57G=	ENSP00000500210.1:n.-57G=
ENST00000672336.1:c.-749G=	ENSP00000500267.1:n.-749G=
ENST00000672427.1:c.-57G=	ENSP00000500131.1:n.-57G=
ENST00000672760.1:c.-57G=	ENSP00000500530.1:n.-57G=
ENST00000672968.1:n.20+84G=
ENST00000673467.1:c.-57G=	ENSP00000500288.1:n.-57G=
ENST00000673620.1:c.-17+84G=	ENSP00000500325.1:n.-17+84G=
ENST00000303498.9:c.4G=	ENSP00000306477.5:p.Ala2=
ENST00000417015.1:c.*255G=	ENSP00000403775.1:n.*255G=
ENST00000427382.1:c.-17+207G=	ENSP00000397113.1:n.-17+207G=
ENST00000437172.5:c.-179G=	ENSP00000400995.1:n.-179G=
ENST00000449107.5:c.50+84G=	ENSP00000388212.1:n.50+84G=
ENST00000467027.5:n.54G=
ENST00000471964.5:n.84G=
ENST00000480711.1:n.107G=
ENST00000494021.1:n.401+84G=
NM_000060.3:c.4G=	NP_000051.1:p.Ala2=
NM_001281723.1:c.50+84G=	NP_001268652.1:n.50+84G=
NM_001281724.1:c.-179G=	NP_001268653.1:n.-179G=
NM_001281726.1:c.4G=	NP_001268655.1:p.Ala2=
XM_006713314.2:c.-333G=	XP_006713377.1:n.-333G=
XM_011534041.1:c.-231G=	XP_011532343.1:n.-231G=
NM_000060.4:c.4G=	NP_000051.1:p.Ala2=
NM_001281723.2:c.50+84G=	NP_001268652.1:n.50+84G=
NM_001281724.2:c.-179G=	NP_001268653.1:n.-179G=
NM_001323582.1:c.-333G=	NP_001310511.1:n.-333G=
XM_011534041.2:c.-231G=	XP_011532343.1:n.-231G=
XM_017007088.1:c.-507G=	XP_016862577.1:n.-507G=
NM_001281723.3:c.-17+84G=	NP_001268652.2:n.-17+84G=
NM_001281724.3:c.-245G=	NP_001268653.2:n.-245G=
NM_001370658.1:c.-57G= MANE Select	NP_001357587.1:n.-57G=
NM_001370752.1:c.-57G=	NP_001357681.1:n.-57G=
NM_001370753.1:c.-57G=	NP_001357682.1:n.-57G=
NM_001281726.2:c.-57G=	NP_001268655.2:n.-57G=