Canonical Allele Identifier: CA1347655431

Gene: BTD HACL1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601603A= , CM000665.2:g.15601603A=	GRCh38
NC_000003.11:g.15643110A= , CM000665.1:g.15643110A=	GRCh37
NC_000003.10:g.15618114A=	NCBI36
NG_008019.1:g.4856A=
NG_008019.2:g.5252A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427382.2:c.-61A= (BTD)	ENSP00000397113.2:n.-61A=
ENST00000449107.7:c.-184A= (BTD)	ENSP00000388212.2:n.-184A=
ENST00000321169.9:c.-140T= (HACL1)	ENSP00000323811.5:n.-140T=
ENST00000417015.1:c.*4A= (BTD)	ENSP00000403775.1:n.*4A=
ENST00000427382.1:c.-61A= (BTD)	ENSP00000397113.1:n.-61A=
ENST00000494021.1:n.234A= (BTD)
ENST00000628377.2:c.-140T= (HACL1)	ENSP00000486684.1:n.-140T=
NM_001281723.1:c.-118A= (BTD)	NP_001268652.1:n.-118A=
NM_001284413.1:c.-140T= (HACL1)	NP_001271342.1:n.-140T=
NM_001284415.1:c.-140T= (HACL1)	NP_001271344.1:n.-140T=
NM_001284416.1:c.-140T= (HACL1)	NP_001271345.1:n.-140T=
NM_012260.3:c.-140T= (HACL1)	NP_036392.2:n.-140T=
NR_104315.1:n.250T= (HACL1)
NM_001281723.2:c.-118A= (BTD)	NP_001268652.1:n.-118A=
NM_001281723.3:c.-184A= (BTD)	NP_001268652.2:n.-184A=