Canonical Allele Identifier: CA2277112

Gene: HACL1 BTD

Linked Data

• dbSNP Id: rs754576234
• ExAC: 3:15643054 G / A
• gnomAD v2: 3-15643054-G-A
• gnomAD v3: 3-15601547-G-A
• gnomAD v4: 3-15601547-G-A
• MyVariant Identifiers: chr3:g.15643054G>A (hg19) ; chr3:g.15601547G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601547G>A , CM000665.2:g.15601547G>A	GRCh38
NC_000003.11:g.15643054G>A , CM000665.1:g.15643054G>A	GRCh37
NC_000003.10:g.15618058G>A	NCBI36
NG_008019.1:g.4800G>A
NG_008019.2:g.5196G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321169.10:c.-84C>T (HACL1) MANE Select	ENSP00000323811.5:n.-84C>T
ENST00000427382.2:c.-117G>A (BTD)	ENSP00000397113.2:n.-117G>A
ENST00000449107.7:c.-240G>A (BTD)	ENSP00000388212.2:n.-240G>A
ENST00000321169.9:c.-84C>T (HACL1)	ENSP00000323811.5:n.-84C>T
ENST00000383779.8:c.-84C>T (HACL1)	ENSP00000373289.4:n.-84C>T
ENST00000414979.1:c.-84C>T (HACL1)	ENSP00000395352.1:n.-84C>T
ENST00000417015.1:c.143G>A (BTD)	ENSP00000403775.1:p.Arg48His
ENST00000421993.5:c.-84C>T (HACL1)	ENSP00000391393.1:n.-84C>T
ENST00000422591.5:c.-84C>T (HACL1)	ENSP00000392796.1:n.-84C>T
ENST00000427382.1:c.-117G>A (BTD)	ENSP00000397113.1:n.-117G>A
ENST00000435217.6:c.-84C>T (HACL1)	ENSP00000395278.2:n.-84C>T
ENST00000451445.6:c.-84C>T (HACL1)	ENSP00000403656.2:n.-84C>T
ENST00000456194.6:c.-84C>T (HACL1)	ENSP00000390699.2:n.-84C>T
ENST00000457447.6:c.-84C>T (HACL1)	ENSP00000404883.2:n.-84C>T
ENST00000460907.1:n.23C>T (HACL1)
ENST00000494021.1:n.178G>A (BTD)
ENST00000628377.2:c.-84C>T (HACL1)	ENSP00000486684.1:n.-84C>T
NM_001281723.1:c.-174G>A (BTD)	NP_001268652.1:n.-174G>A
NM_001284413.1:c.-84C>T (HACL1)	NP_001271342.1:n.-84C>T
NM_001284415.1:c.-84C>T (HACL1)	NP_001271344.1:n.-84C>T
NM_001284416.1:c.-84C>T (HACL1)	NP_001271345.1:n.-84C>T
NM_012260.3:c.-84C>T (HACL1)	NP_036392.2:n.-84C>T
NR_104315.1:n.306C>T (HACL1)
NM_001281723.2:c.-174G>A (BTD)	NP_001268652.1:n.-174G>A
NM_001281723.3:c.-240G>A (BTD)	NP_001268652.2:n.-240G>A
NM_001284413.2:c.-84C>T (HACL1)	NP_001271342.1:n.-84C>T
NM_001284415.2:c.-84C>T (HACL1)	NP_001271344.1:n.-84C>T
NM_001284416.2:c.-84C>T (HACL1)	NP_001271345.1:n.-84C>T
NM_012260.4:c.-84C>T (HACL1) MANE Select	NP_036392.2:n.-84C>T
NR_104315.2:n.23C>T (HACL1)