Canonical Allele Identifier: CA1347655538

Gene: BTD HACL1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601790G= , CM000665.2:g.15601790G=	GRCh38
NC_000003.11:g.15643297G= , CM000665.1:g.15643297G=	GRCh37
NC_000003.10:g.15618301G=	NCBI36
NG_008019.1:g.5043G=
NG_008019.2:g.5439G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000671928.2:c.-121G= (BTD)	ENSP00000500069.2:n.-121G=
ENST00000672892.2:c.-121G= (BTD)	ENSP00000499944.2:n.-121G=
ENST00000303498.10:c.-397G= (BTD)	ENSP00000306477.6:n.-397G=
ENST00000417015.3:c.-121G= (BTD)	ENSP00000403775.3:n.-121G=
ENST00000427382.2:c.-17+143G= (BTD)	ENSP00000397113.2:n.-17+143G=
ENST00000449107.7:c.-17+20G= (BTD)	ENSP00000388212.2:n.-17+20G=
ENST00000467027.6:n.27G= (BTD)
ENST00000643237.3:c.-121G= (BTD) MANE Select	ENSP00000495254.2:n.-121G=
ENST00000646371.1:c.-293+20G= (BTD)	ENSP00000495866.1:n.-293+20G=
ENST00000672065.1:c.-61G= (BTD)	ENSP00000500403.1:n.-61G=
ENST00000672112.1:c.-243G= (BTD)	ENSP00000500193.1:n.-243G=
ENST00000672141.1:c.-121G= (BTD)	ENSP00000500210.1:n.-121G=
ENST00000672336.1:c.-813G= (BTD)	ENSP00000500267.1:n.-813G=
ENST00000672427.1:c.-121G= (BTD)	ENSP00000500131.1:n.-121G=
ENST00000672760.1:c.-121G= (BTD)	ENSP00000500530.1:n.-121G=
ENST00000672968.1:n.20+20G= (BTD)
ENST00000673467.1:c.-121G= (BTD)	ENSP00000500288.1:n.-121G=
ENST00000673620.1:c.-17+20G= (BTD)	ENSP00000500325.1:n.-17+20G=
ENST00000303498.9:c.-61G= (BTD)	ENSP00000306477.5:n.-61G=
ENST00000321169.9:c.-327C= (HACL1)	ENSP00000323811.5:n.-327C=
ENST00000417015.1:c.*191G= (BTD)	ENSP00000403775.1:n.*191G=
ENST00000427382.1:c.-17+143G= (BTD)	ENSP00000397113.1:n.-17+143G=
ENST00000449107.5:c.50+20G= (BTD)	ENSP00000388212.1:n.50+20G=
ENST00000471964.5:n.20G= (BTD)
ENST00000480711.1:n.43G= (BTD)
ENST00000494021.1:n.401+20G= (BTD)
ENST00000628377.2:c.-327C= (HACL1)	ENSP00000486684.1:n.-327C=
NM_000060.3:c.-61G= (BTD)	NP_000051.1:n.-61G=
NM_001281723.1:c.50+20G= (BTD)	NP_001268652.1:n.50+20G=
NM_001281724.1:c.-243G= (BTD)	NP_001268653.1:n.-243G=
NM_001281726.1:c.-61G= (BTD)	NP_001268655.1:n.-61G=
NM_001284413.1:c.-327C= (HACL1)	NP_001271342.1:n.-327C=
NM_001284415.1:c.-327C= (HACL1)	NP_001271344.1:n.-327C=
NM_001284416.1:c.-327C= (HACL1)	NP_001271345.1:n.-327C=
NM_012260.3:c.-327C= (HACL1)	NP_036392.2:n.-327C=
NR_104315.1:n.63C= (HACL1)
NM_000060.4:c.-61G= (BTD)	NP_000051.1:n.-61G=
NM_001281723.2:c.50+20G= (BTD)	NP_001268652.1:n.50+20G=
NM_001281724.2:c.-243G= (BTD)	NP_001268653.1:n.-243G=
NM_001323582.1:c.-397G= (BTD)	NP_001310511.1:n.-397G=
NM_001281723.3:c.-17+20G= (BTD)	NP_001268652.2:n.-17+20G=
NM_001281724.3:c.-309G= (BTD)	NP_001268653.2:n.-309G=
NM_001370658.1:c.-121G= (BTD) MANE Select	NP_001357587.1:n.-121G=
NM_001370752.1:c.-121G= (BTD)	NP_001357681.1:n.-121G=
NM_001370753.1:c.-121G= (BTD)	NP_001357682.1:n.-121G=
NM_001281726.2:c.-121G= (BTD)	NP_001268655.2:n.-121G=