Canonical Allele Identifier: CA2664666338

Gene: BTD HACL1

Linked Data

• gnomAD v4: 3-15601689-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601689T>C , CM000665.2:g.15601689T>C	GRCh38
NC_000003.11:g.15643196T>C , CM000665.1:g.15643196T>C	GRCh37
NC_000003.10:g.15618200T>C	NCBI36
NG_008019.1:g.4942T>C
NG_008019.2:g.5338T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427382.2:c.-17+42T>C (BTD)	ENSP00000397113.2:n.-17+42T>C
ENST00000449107.7:c.-98T>C (BTD)	ENSP00000388212.2:n.-98T>C
ENST00000321169.9:c.-226A>G (HACL1)	ENSP00000323811.5:n.-226A>G
ENST00000417015.1:c.*90T>C (BTD)	ENSP00000403775.1:n.*90T>C
ENST00000427382.1:c.-17+42T>C (BTD)	ENSP00000397113.1:n.-17+42T>C
ENST00000449107.5:c.-32T>C (BTD)	ENSP00000388212.1:n.-32T>C
ENST00000494021.1:n.320T>C (BTD)
ENST00000628377.2:c.-226A>G (HACL1)	ENSP00000486684.1:n.-226A>G
NM_001281723.1:c.-32T>C (BTD)	NP_001268652.1:n.-32T>C
NM_001284413.1:c.-226A>G (HACL1)	NP_001271342.1:n.-226A>G
NM_001284415.1:c.-226A>G (HACL1)	NP_001271344.1:n.-226A>G
NM_001284416.1:c.-226A>G (HACL1)	NP_001271345.1:n.-226A>G
NM_012260.3:c.-226A>G (HACL1)	NP_036392.2:n.-226A>G
NR_104315.1:n.164A>G (HACL1)
NM_001281723.2:c.-32T>C (BTD)	NP_001268652.1:n.-32T>C
NM_001281723.3:c.-98T>C (BTD)	NP_001268652.2:n.-98T>C