Canonical Allele Identifier: CA2664666297

Gene: BTD HACL1

Linked Data

• gnomAD v4: 3-15601592-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601592T>G , CM000665.2:g.15601592T>G	GRCh38
NC_000003.11:g.15643099T>G , CM000665.1:g.15643099T>G	GRCh37
NC_000003.10:g.15618103T>G	NCBI36
NG_008019.1:g.4845T>G
NG_008019.2:g.5241T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427382.2:c.-72T>G (BTD)	ENSP00000397113.2:n.-72T>G
ENST00000449107.7:c.-195T>G (BTD)	ENSP00000388212.2:n.-195T>G
ENST00000321169.9:c.-129A>C (HACL1)	ENSP00000323811.5:n.-129A>C
ENST00000417015.1:c.188T>G (BTD)	ENSP00000403775.1:p.Leu63Arg
ENST00000421993.5:c.-129A>C (HACL1)	ENSP00000391393.1:n.-129A>C
ENST00000427382.1:c.-72T>G (BTD)	ENSP00000397113.1:n.-72T>G
ENST00000494021.1:n.223T>G (BTD)
ENST00000628377.2:c.-129A>C (HACL1)	ENSP00000486684.1:n.-129A>C
NM_001281723.1:c.-129T>G (BTD)	NP_001268652.1:n.-129T>G
NM_001284413.1:c.-129A>C (HACL1)	NP_001271342.1:n.-129A>C
NM_001284415.1:c.-129A>C (HACL1)	NP_001271344.1:n.-129A>C
NM_001284416.1:c.-129A>C (HACL1)	NP_001271345.1:n.-129A>C
NM_012260.3:c.-129A>C (HACL1)	NP_036392.2:n.-129A>C
NR_104315.1:n.261A>C (HACL1)
NM_001281723.2:c.-129T>G (BTD)	NP_001268652.1:n.-129T>G
NM_001281723.3:c.-195T>G (BTD)	NP_001268652.2:n.-195T>G