Canonical Allele Identifier: CA2277140

Gene: BTD HACL1

Linked Data

• dbSNP Id: rs746432393
• ExAC: 3:15643229 T / G
• gnomAD v2: 3-15643229-T-G
• gnomAD v3: 3-15601722-T-G
• gnomAD v4: 3-15601722-T-G
• MyVariant Identifiers: chr3:g.15643229T>G (hg19) ; chr3:g.15601722T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601722T>G , CM000665.2:g.15601722T>G	GRCh38
NC_000003.11:g.15643229T>G , CM000665.1:g.15643229T>G	GRCh37
NC_000003.10:g.15618233T>G	NCBI36
NG_008019.1:g.4975T>G
NG_008019.2:g.5371T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427382.2:c.-17+75T>G (BTD)	ENSP00000397113.2:n.-17+75T>G
ENST00000449107.7:c.-65T>G (BTD)	ENSP00000388212.2:n.-65T>G
ENST00000321169.9:c.-259A>C (HACL1)	ENSP00000323811.5:n.-259A>C
ENST00000417015.1:c.*123T>G (BTD)	ENSP00000403775.1:n.*123T>G
ENST00000427382.1:c.-17+75T>G (BTD)	ENSP00000397113.1:n.-17+75T>G
ENST00000449107.5:c.2T>G (BTD)	ENSP00000388212.1:p.Met1Arg
ENST00000494021.1:n.353T>G (BTD)
ENST00000628377.2:c.-259A>C (HACL1)	ENSP00000486684.1:n.-259A>C
NM_001281723.1:c.2T>G (BTD)	NP_001268652.1:p.Met1Arg
NM_001284413.1:c.-259A>C (HACL1)	NP_001271342.1:n.-259A>C
NM_001284415.1:c.-259A>C (HACL1)	NP_001271344.1:n.-259A>C
NM_001284416.1:c.-259A>C (HACL1)	NP_001271345.1:n.-259A>C
NM_012260.3:c.-259A>C (HACL1)	NP_036392.2:n.-259A>C
NR_104315.1:n.131A>C (HACL1)
NM_001281723.2:c.2T>G (BTD)	NP_001268652.1:p.Met1Arg
NM_001281723.3:c.-65T>G (BTD)	NP_001268652.2:n.-65T>G