Canonical Allele Identifier: CA901112885

Gene: BTD HACL1

Linked Data

• dbSNP Id: rs1186898785
• gnomAD v3: 3-15601602-A-T
• gnomAD v4: 3-15601602-A-T
• MyVariant Identifiers: chr3:g.15643109A>T (hg19) ; chr3:g.15601602A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601602A>T , CM000665.2:g.15601602A>T	GRCh38
NC_000003.11:g.15643109A>T , CM000665.1:g.15643109A>T	GRCh37
NC_000003.10:g.15618113A>T	NCBI36
NG_008019.1:g.4855A>T
NG_008019.2:g.5251A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427382.2:c.-62A>T (BTD)	ENSP00000397113.2:n.-62A>T
ENST00000449107.7:c.-185A>T (BTD)	ENSP00000388212.2:n.-185A>T
ENST00000321169.9:c.-139T>A (HACL1)	ENSP00000323811.5:n.-139T>A
ENST00000417015.1:c.*3A>T (BTD)	ENSP00000403775.1:n.*3A>T
ENST00000427382.1:c.-62A>T (BTD)	ENSP00000397113.1:n.-62A>T
ENST00000494021.1:n.233A>T (BTD)
ENST00000628377.2:c.-139T>A (HACL1)	ENSP00000486684.1:n.-139T>A
NM_001281723.1:c.-119A>T (BTD)	NP_001268652.1:n.-119A>T
NM_001284413.1:c.-139T>A (HACL1)	NP_001271342.1:n.-139T>A
NM_001284415.1:c.-139T>A (HACL1)	NP_001271344.1:n.-139T>A
NM_001284416.1:c.-139T>A (HACL1)	NP_001271345.1:n.-139T>A
NM_012260.3:c.-139T>A (HACL1)	NP_036392.2:n.-139T>A
NR_104315.1:n.251T>A (HACL1)
NM_001281723.2:c.-119A>T (BTD)	NP_001268652.1:n.-119A>T
NM_001281723.3:c.-185A>T (BTD)	NP_001268652.2:n.-185A>T