Canonical Allele Identifier: CA1347655565

Gene: BTD HACL1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601815G= , CM000665.2:g.15601815G=	GRCh38
NC_000003.11:g.15643322G= , CM000665.1:g.15643322G=	GRCh37
NC_000003.10:g.15618326G=	NCBI36
NG_008019.1:g.5068G=
NG_008019.2:g.5464G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000671928.2:c.-96G= (BTD)	ENSP00000500069.2:n.-96G=
ENST00000672892.2:c.-96G= (BTD)	ENSP00000499944.2:n.-96G=
ENST00000303498.10:c.-372G= (BTD)	ENSP00000306477.6:n.-372G=
ENST00000417015.3:c.-96G= (BTD)	ENSP00000403775.3:n.-96G=
ENST00000427382.2:c.-17+168G= (BTD)	ENSP00000397113.2:n.-17+168G=
ENST00000437172.6:c.-284G= (BTD)	ENSP00000400995.2:n.-284G=
ENST00000449107.7:c.-17+45G= (BTD)	ENSP00000388212.2:n.-17+45G=
ENST00000467027.6:n.52G= (BTD)
ENST00000643237.3:c.-96G= (BTD) MANE Select	ENSP00000495254.2:n.-96G=
ENST00000646371.1:c.-293+45G= (BTD)	ENSP00000495866.1:n.-293+45G=
ENST00000672065.1:c.-36G= (BTD)	ENSP00000500403.1:n.-36G=
ENST00000672112.1:c.-218G= (BTD)	ENSP00000500193.1:n.-218G=
ENST00000672141.1:c.-96G= (BTD)	ENSP00000500210.1:n.-96G=
ENST00000672336.1:c.-788G= (BTD)	ENSP00000500267.1:n.-788G=
ENST00000672427.1:c.-96G= (BTD)	ENSP00000500131.1:n.-96G=
ENST00000672760.1:c.-96G= (BTD)	ENSP00000500530.1:n.-96G=
ENST00000672968.1:n.20+45G= (BTD)
ENST00000673467.1:c.-96G= (BTD)	ENSP00000500288.1:n.-96G=
ENST00000673620.1:c.-17+45G= (BTD)	ENSP00000500325.1:n.-17+45G=
ENST00000303498.9:c.-36G= (BTD)	ENSP00000306477.5:n.-36G=
ENST00000321169.9:c.-352C= (HACL1)	ENSP00000323811.5:n.-352C=
ENST00000417015.1:c.*216G= (BTD)	ENSP00000403775.1:n.*216G=
ENST00000427382.1:c.-17+168G= (BTD)	ENSP00000397113.1:n.-17+168G=
ENST00000437172.5:c.-218G= (BTD)	ENSP00000400995.1:n.-218G=
ENST00000449107.5:c.50+45G= (BTD)	ENSP00000388212.1:n.50+45G=
ENST00000467027.5:n.15G= (BTD)
ENST00000471964.5:n.45G= (BTD)
ENST00000480711.1:n.68G= (BTD)
ENST00000494021.1:n.401+45G= (BTD)
ENST00000628377.2:c.-352C= (HACL1)	ENSP00000486684.1:n.-352C=
NM_000060.3:c.-36G= (BTD)	NP_000051.1:n.-36G=
NM_001281723.1:c.50+45G= (BTD)	NP_001268652.1:n.50+45G=
NM_001281724.1:c.-218G= (BTD)	NP_001268653.1:n.-218G=
NM_001281726.1:c.-36G= (BTD)	NP_001268655.1:n.-36G=
NM_001284413.1:c.-352C= (HACL1)	NP_001271342.1:n.-352C=
NM_001284415.1:c.-352C= (HACL1)	NP_001271344.1:n.-352C=
NM_001284416.1:c.-352C= (HACL1)	NP_001271345.1:n.-352C=
NM_012260.3:c.-352C= (HACL1)	NP_036392.2:n.-352C=
NR_104315.1:n.38C= (HACL1)
XM_006713314.2:c.-372G= (BTD)	XP_006713377.1:n.-372G=
XM_011534041.1:c.-270G= (BTD)	XP_011532343.1:n.-270G=
NM_000060.4:c.-36G= (BTD)	NP_000051.1:n.-36G=
NM_001281723.2:c.50+45G= (BTD)	NP_001268652.1:n.50+45G=
NM_001281724.2:c.-218G= (BTD)	NP_001268653.1:n.-218G=
NM_001323582.1:c.-372G= (BTD)	NP_001310511.1:n.-372G=
XM_011534041.2:c.-270G= (BTD)	XP_011532343.1:n.-270G=
XM_017007088.1:c.-546G= (BTD)	XP_016862577.1:n.-546G=
NM_001281723.3:c.-17+45G= (BTD)	NP_001268652.2:n.-17+45G=
NM_001281724.3:c.-284G= (BTD)	NP_001268653.2:n.-284G=
NM_001370658.1:c.-96G= (BTD) MANE Select	NP_001357587.1:n.-96G=
NM_001370752.1:c.-96G= (BTD)	NP_001357681.1:n.-96G=
NM_001370753.1:c.-96G= (BTD)	NP_001357682.1:n.-96G=
NM_001281726.2:c.-96G= (BTD)	NP_001268655.2:n.-96G=