Canonical Allele Identifier: CA2577522489

Gene: HACL1 BTD

Linked Data

• dbSNP Id: rs889738508
• gnomAD v4: 3-15601542-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601542A>G , CM000665.2:g.15601542A>G	GRCh38
NC_000003.11:g.15643049A>G , CM000665.1:g.15643049A>G	GRCh37
NC_000003.10:g.15618053A>G	NCBI36
NG_008019.1:g.4795A>G
NG_008019.2:g.5191A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321169.10:c.-79T>C (HACL1) MANE Select	ENSP00000323811.5:n.-79T>C
ENST00000427382.2:c.-122A>G (BTD)	ENSP00000397113.2:n.-122A>G
ENST00000449107.7:c.-245A>G (BTD)	ENSP00000388212.2:n.-245A>G
ENST00000321169.9:c.-79T>C (HACL1)	ENSP00000323811.5:n.-79T>C
ENST00000383779.8:c.-79T>C (HACL1)	ENSP00000373289.4:n.-79T>C
ENST00000414979.1:c.-79T>C (HACL1)	ENSP00000395352.1:n.-79T>C
ENST00000417015.1:c.138A>G (BTD)	ENSP00000403775.1:p.Ala46=
ENST00000421993.5:c.-79T>C (HACL1)	ENSP00000391393.1:n.-79T>C
ENST00000422591.5:c.-79T>C (HACL1)	ENSP00000392796.1:n.-79T>C
ENST00000427382.1:c.-122A>G (BTD)	ENSP00000397113.1:n.-122A>G
ENST00000435217.6:c.-79T>C (HACL1)	ENSP00000395278.2:n.-79T>C
ENST00000451445.6:c.-79T>C (HACL1)	ENSP00000403656.2:n.-79T>C
ENST00000456194.6:c.-79T>C (HACL1)	ENSP00000390699.2:n.-79T>C
ENST00000457447.6:c.-79T>C (HACL1)	ENSP00000404883.2:n.-79T>C
ENST00000460907.1:n.28T>C (HACL1)
ENST00000472857.1:n.5T>C (HACL1)
ENST00000494021.1:n.173A>G (BTD)
ENST00000628377.2:c.-79T>C (HACL1)	ENSP00000486684.1:n.-79T>C
NM_001281723.1:c.-179A>G (BTD)	NP_001268652.1:n.-179A>G
NM_001284413.1:c.-79T>C (HACL1)	NP_001271342.1:n.-79T>C
NM_001284415.1:c.-79T>C (HACL1)	NP_001271344.1:n.-79T>C
NM_001284416.1:c.-79T>C (HACL1)	NP_001271345.1:n.-79T>C
NM_012260.3:c.-79T>C (HACL1)	NP_036392.2:n.-79T>C
NR_104315.1:n.311T>C (HACL1)
NM_001281723.2:c.-179A>G (BTD)	NP_001268652.1:n.-179A>G
NM_001281723.3:c.-245A>G (BTD)	NP_001268652.2:n.-245A>G
NM_001284413.2:c.-79T>C (HACL1)	NP_001271342.1:n.-79T>C
NM_001284415.2:c.-79T>C (HACL1)	NP_001271344.1:n.-79T>C
NM_001284416.2:c.-79T>C (HACL1)	NP_001271345.1:n.-79T>C
NM_012260.4:c.-79T>C (HACL1) MANE Select	NP_036392.2:n.-79T>C
NR_104315.2:n.28T>C (HACL1)