Canonical Allele Identifier: CA1347655423

Gene: BTD HACL1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601587C= , CM000665.2:g.15601587C=	GRCh38
NC_000003.11:g.15643094C= , CM000665.1:g.15643094C=	GRCh37
NC_000003.10:g.15618098C=	NCBI36
NG_008019.1:g.4840C=
NG_008019.2:g.5236C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427382.2:c.-77C= (BTD)	ENSP00000397113.2:n.-77C=
ENST00000449107.7:c.-200C= (BTD)	ENSP00000388212.2:n.-200C=
ENST00000321169.9:c.-124G= (HACL1)	ENSP00000323811.5:n.-124G=
ENST00000417015.1:c.183C= (BTD)	ENSP00000403775.1:p.Asn61=
ENST00000421993.5:c.-124G= (HACL1)	ENSP00000391393.1:n.-124G=
ENST00000427382.1:c.-77C= (BTD)	ENSP00000397113.1:n.-77C=
ENST00000451445.6:c.-124G= (HACL1)	ENSP00000403656.2:n.-124G=
ENST00000494021.1:n.218C= (BTD)
ENST00000628377.2:c.-124G= (HACL1)	ENSP00000486684.1:n.-124G=
NM_001281723.1:c.-134C= (BTD)	NP_001268652.1:n.-134C=
NM_001284413.1:c.-124G= (HACL1)	NP_001271342.1:n.-124G=
NM_001284415.1:c.-124G= (HACL1)	NP_001271344.1:n.-124G=
NM_001284416.1:c.-124G= (HACL1)	NP_001271345.1:n.-124G=
NM_012260.3:c.-124G= (HACL1)	NP_036392.2:n.-124G=
NR_104315.1:n.266G= (HACL1)
NM_001281723.2:c.-134C= (BTD)	NP_001268652.1:n.-134C=
NM_001281723.3:c.-200C= (BTD)	NP_001268652.2:n.-200C=