Canonical Allele Identifier: CA1347655426

Gene: BTD HACL1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601591C= , CM000665.2:g.15601591C=	GRCh38
NC_000003.11:g.15643098C= , CM000665.1:g.15643098C=	GRCh37
NC_000003.10:g.15618102C=	NCBI36
NG_008019.1:g.4844C=
NG_008019.2:g.5240C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427382.2:c.-73C= (BTD)	ENSP00000397113.2:n.-73C=
ENST00000449107.7:c.-196C= (BTD)	ENSP00000388212.2:n.-196C=
ENST00000321169.9:c.-128G= (HACL1)	ENSP00000323811.5:n.-128G=
ENST00000417015.1:c.187C= (BTD)	ENSP00000403775.1:p.Leu63=
ENST00000421993.5:c.-128G= (HACL1)	ENSP00000391393.1:n.-128G=
ENST00000427382.1:c.-73C= (BTD)	ENSP00000397113.1:n.-73C=
ENST00000494021.1:n.222C= (BTD)
ENST00000628377.2:c.-128G= (HACL1)	ENSP00000486684.1:n.-128G=
NM_001281723.1:c.-130C= (BTD)	NP_001268652.1:n.-130C=
NM_001284413.1:c.-128G= (HACL1)	NP_001271342.1:n.-128G=
NM_001284415.1:c.-128G= (HACL1)	NP_001271344.1:n.-128G=
NM_001284416.1:c.-128G= (HACL1)	NP_001271345.1:n.-128G=
NM_012260.3:c.-128G= (HACL1)	NP_036392.2:n.-128G=
NR_104315.1:n.262G= (HACL1)
NM_001281723.2:c.-130C= (BTD)	NP_001268652.1:n.-130C=
NM_001281723.3:c.-196C= (BTD)	NP_001268652.2:n.-196C=