Canonical Allele Identifier: CA2664666295

Gene: BTD HACL1

Linked Data

• gnomAD v4: 3-15601588-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601588C>A , CM000665.2:g.15601588C>A	GRCh38
NC_000003.11:g.15643095C>A , CM000665.1:g.15643095C>A	GRCh37
NC_000003.10:g.15618099C>A	NCBI36
NG_008019.1:g.4841C>A
NG_008019.2:g.5237C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427382.2:c.-76C>A (BTD)	ENSP00000397113.2:n.-76C>A
ENST00000449107.7:c.-199C>A (BTD)	ENSP00000388212.2:n.-199C>A
ENST00000321169.9:c.-125G>T (HACL1)	ENSP00000323811.5:n.-125G>T
ENST00000417015.1:c.184C>A (BTD)	ENSP00000403775.1:p.Gln62Lys
ENST00000421993.5:c.-125G>T (HACL1)	ENSP00000391393.1:n.-125G>T
ENST00000427382.1:c.-76C>A (BTD)	ENSP00000397113.1:n.-76C>A
ENST00000494021.1:n.219C>A (BTD)
ENST00000628377.2:c.-125G>T (HACL1)	ENSP00000486684.1:n.-125G>T
NM_001281723.1:c.-133C>A (BTD)	NP_001268652.1:n.-133C>A
NM_001284413.1:c.-125G>T (HACL1)	NP_001271342.1:n.-125G>T
NM_001284415.1:c.-125G>T (HACL1)	NP_001271344.1:n.-125G>T
NM_001284416.1:c.-125G>T (HACL1)	NP_001271345.1:n.-125G>T
NM_012260.3:c.-125G>T (HACL1)	NP_036392.2:n.-125G>T
NR_104315.1:n.265G>T (HACL1)
NM_001281723.2:c.-133C>A (BTD)	NP_001268652.1:n.-133C>A
NM_001281723.3:c.-199C>A (BTD)	NP_001268652.2:n.-199C>A