Canonical Allele Identifier: CA1347655485

Gene: BTD HACL1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601711G= , CM000665.2:g.15601711G=	GRCh38
NC_000003.11:g.15643218G= , CM000665.1:g.15643218G=	GRCh37
NC_000003.10:g.15618222G=	NCBI36
NG_008019.1:g.4964G=
NG_008019.2:g.5360G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427382.2:c.-17+64G= (BTD)	ENSP00000397113.2:n.-17+64G=
ENST00000449107.7:c.-76G= (BTD)	ENSP00000388212.2:n.-76G=
ENST00000321169.9:c.-248C= (HACL1)	ENSP00000323811.5:n.-248C=
ENST00000417015.1:c.*112G= (BTD)	ENSP00000403775.1:n.*112G=
ENST00000427382.1:c.-17+64G= (BTD)	ENSP00000397113.1:n.-17+64G=
ENST00000449107.5:c.-10G= (BTD)	ENSP00000388212.1:n.-10G=
ENST00000494021.1:n.342G= (BTD)
ENST00000628377.2:c.-248C= (HACL1)	ENSP00000486684.1:n.-248C=
NM_001281723.1:c.-10G= (BTD)	NP_001268652.1:n.-10G=
NM_001284413.1:c.-248C= (HACL1)	NP_001271342.1:n.-248C=
NM_001284415.1:c.-248C= (HACL1)	NP_001271344.1:n.-248C=
NM_001284416.1:c.-248C= (HACL1)	NP_001271345.1:n.-248C=
NM_012260.3:c.-248C= (HACL1)	NP_036392.2:n.-248C=
NR_104315.1:n.142C= (HACL1)
NM_001281723.2:c.-10G= (BTD)	NP_001268652.1:n.-10G=
NM_001281723.3:c.-76G= (BTD)	NP_001268652.2:n.-76G=