Canonical Allele Identifier: CA1347655465

Gene: BTD HACL1

Linked Data

• dbSNP Id: rs2064247122
• gnomAD v4: 3-15601667-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601667C>T , CM000665.2:g.15601667C>T	GRCh38
NC_000003.11:g.15643174C>T , CM000665.1:g.15643174C>T	GRCh37
NC_000003.10:g.15618178C>T	NCBI36
NG_008019.1:g.4920C>T
NG_008019.2:g.5316C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427382.2:c.-17+20C>T (BTD)	ENSP00000397113.2:n.-17+20C>T
ENST00000449107.7:c.-120C>T (BTD)	ENSP00000388212.2:n.-120C>T
ENST00000321169.9:c.-204G>A (HACL1)	ENSP00000323811.5:n.-204G>A
ENST00000417015.1:c.*68C>T (BTD)	ENSP00000403775.1:n.*68C>T
ENST00000427382.1:c.-17+20C>T (BTD)	ENSP00000397113.1:n.-17+20C>T
ENST00000449107.5:c.-54C>T (BTD)	ENSP00000388212.1:n.-54C>T
ENST00000494021.1:n.298C>T (BTD)
ENST00000628377.2:c.-204G>A (HACL1)	ENSP00000486684.1:n.-204G>A
NM_001281723.1:c.-54C>T (BTD)	NP_001268652.1:n.-54C>T
NM_001284413.1:c.-204G>A (HACL1)	NP_001271342.1:n.-204G>A
NM_001284415.1:c.-204G>A (HACL1)	NP_001271344.1:n.-204G>A
NM_001284416.1:c.-204G>A (HACL1)	NP_001271345.1:n.-204G>A
NM_012260.3:c.-204G>A (HACL1)	NP_036392.2:n.-204G>A
NR_104315.1:n.186G>A (HACL1)
NM_001281723.2:c.-54C>T (BTD)	NP_001268652.1:n.-54C>T
NM_001281723.3:c.-120C>T (BTD)	NP_001268652.2:n.-120C>T