Canonical Allele Identifier: CA1045367824

Gene: BTD HACL1

Linked Data

• dbSNP Id: rs2064247952
• gnomAD v3: 3-15601707-A-G
• gnomAD v4: 3-15601707-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601707A>G , CM000665.2:g.15601707A>G	GRCh38
NC_000003.11:g.15643214A>G , CM000665.1:g.15643214A>G	GRCh37
NC_000003.10:g.15618218A>G	NCBI36
NG_008019.1:g.4960A>G
NG_008019.2:g.5356A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427382.2:c.-17+60A>G (BTD)	ENSP00000397113.2:n.-17+60A>G
ENST00000449107.7:c.-80A>G (BTD)	ENSP00000388212.2:n.-80A>G
ENST00000321169.9:c.-244T>C (HACL1)	ENSP00000323811.5:n.-244T>C
ENST00000417015.1:c.*108A>G (BTD)	ENSP00000403775.1:n.*108A>G
ENST00000427382.1:c.-17+60A>G (BTD)	ENSP00000397113.1:n.-17+60A>G
ENST00000449107.5:c.-14A>G (BTD)	ENSP00000388212.1:n.-14A>G
ENST00000494021.1:n.338A>G (BTD)
ENST00000628377.2:c.-244T>C (HACL1)	ENSP00000486684.1:n.-244T>C
NM_001281723.1:c.-14A>G (BTD)	NP_001268652.1:n.-14A>G
NM_001284413.1:c.-244T>C (HACL1)	NP_001271342.1:n.-244T>C
NM_001284415.1:c.-244T>C (HACL1)	NP_001271344.1:n.-244T>C
NM_001284416.1:c.-244T>C (HACL1)	NP_001271345.1:n.-244T>C
NM_012260.3:c.-244T>C (HACL1)	NP_036392.2:n.-244T>C
NR_104315.1:n.146T>C (HACL1)
NM_001281723.2:c.-14A>G (BTD)	NP_001268652.1:n.-14A>G
NM_001281723.3:c.-80A>G (BTD)	NP_001268652.2:n.-80A>G