Canonical Allele Identifier: CA2277164

Gene: BTD HACL1

Linked Data

• ClinVar Variation Id: 343903
• ClinVar RCV Id: RCV000381441
• dbSNP Id: rs755119589
• ExAC: 3:15643331 G / T
• gnomAD v2: 3-15643331-G-T
• gnomAD v3: 3-15601824-G-T
• gnomAD v4: 3-15601824-G-T
• MyVariant Identifiers: chr3:g.15643331G>T (hg19) ; chr3:g.15601824G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601824G>T , CM000665.2:g.15601824G>T	GRCh38
NC_000003.11:g.15643331G>T , CM000665.1:g.15643331G>T	GRCh37
NC_000003.10:g.15618335G>T	NCBI36
NG_008019.1:g.5077G>T
NG_008019.2:g.5473G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000671928.2:c.-87G>T (BTD)	ENSP00000500069.2:n.-87G>T
ENST00000672892.2:c.-87G>T (BTD)	ENSP00000499944.2:n.-87G>T
ENST00000303498.10:c.-363G>T (BTD)	ENSP00000306477.6:n.-363G>T
ENST00000417015.3:c.-87G>T (BTD)	ENSP00000403775.3:n.-87G>T
ENST00000427382.2:c.-17+177G>T (BTD)	ENSP00000397113.2:n.-17+177G>T
ENST00000437172.6:c.-275G>T (BTD)	ENSP00000400995.2:n.-275G>T
ENST00000449107.7:c.-17+54G>T (BTD)	ENSP00000388212.2:n.-17+54G>T
ENST00000467027.6:n.61G>T (BTD)
ENST00000643237.3:c.-87G>T (BTD) MANE Select	ENSP00000495254.2:n.-87G>T
ENST00000646371.1:c.-293+54G>T (BTD)	ENSP00000495866.1:n.-293+54G>T
ENST00000672065.1:c.-27G>T (BTD)	ENSP00000500403.1:n.-27G>T
ENST00000672112.1:c.-209G>T (BTD)	ENSP00000500193.1:n.-209G>T
ENST00000672141.1:c.-87G>T (BTD)	ENSP00000500210.1:n.-87G>T
ENST00000672336.1:c.-779G>T (BTD)	ENSP00000500267.1:n.-779G>T
ENST00000672427.1:c.-87G>T (BTD)	ENSP00000500131.1:n.-87G>T
ENST00000672760.1:c.-87G>T (BTD)	ENSP00000500530.1:n.-87G>T
ENST00000672968.1:n.20+54G>T (BTD)
ENST00000673467.1:c.-87G>T (BTD)	ENSP00000500288.1:n.-87G>T
ENST00000673620.1:c.-17+54G>T (BTD)	ENSP00000500325.1:n.-17+54G>T
ENST00000303498.9:c.-27G>T (BTD)	ENSP00000306477.5:n.-27G>T
ENST00000321169.9:c.-361C>A (HACL1)	ENSP00000323811.5:n.-361C>A
ENST00000417015.1:c.*225G>T (BTD)	ENSP00000403775.1:n.*225G>T
ENST00000427382.1:c.-17+177G>T (BTD)	ENSP00000397113.1:n.-17+177G>T
ENST00000437172.5:c.-209G>T (BTD)	ENSP00000400995.1:n.-209G>T
ENST00000449107.5:c.50+54G>T (BTD)	ENSP00000388212.1:n.50+54G>T
ENST00000467027.5:n.24G>T (BTD)
ENST00000471964.5:n.54G>T (BTD)
ENST00000480711.1:n.77G>T (BTD)
ENST00000494021.1:n.401+54G>T (BTD)
ENST00000628377.2:c.-361C>A (HACL1)	ENSP00000486684.1:n.-361C>A
NM_000060.3:c.-27G>T (BTD)	NP_000051.1:n.-27G>T
NM_001281723.1:c.50+54G>T (BTD)	NP_001268652.1:n.50+54G>T
NM_001281724.1:c.-209G>T (BTD)	NP_001268653.1:n.-209G>T
NM_001281726.1:c.-27G>T (BTD)	NP_001268655.1:n.-27G>T
NM_001284413.1:c.-361C>A (HACL1)	NP_001271342.1:n.-361C>A
NM_001284415.1:c.-361C>A (HACL1)	NP_001271344.1:n.-361C>A
NM_001284416.1:c.-361C>A (HACL1)	NP_001271345.1:n.-361C>A
NM_012260.3:c.-361C>A (HACL1)	NP_036392.2:n.-361C>A
NR_104315.1:n.29C>A (HACL1)
XM_006713314.2:c.-363G>T (BTD)	XP_006713377.1:n.-363G>T
XM_011534041.1:c.-261G>T (BTD)	XP_011532343.1:n.-261G>T
NM_000060.4:c.-27G>T (BTD)	NP_000051.1:n.-27G>T
NM_001281723.2:c.50+54G>T (BTD)	NP_001268652.1:n.50+54G>T
NM_001281724.2:c.-209G>T (BTD)	NP_001268653.1:n.-209G>T
NM_001323582.1:c.-363G>T (BTD)	NP_001310511.1:n.-363G>T
XM_011534041.2:c.-261G>T (BTD)	XP_011532343.1:n.-261G>T
XM_017007088.1:c.-537G>T (BTD)	XP_016862577.1:n.-537G>T
NM_001281723.3:c.-17+54G>T (BTD)	NP_001268652.2:n.-17+54G>T
NM_001281724.3:c.-275G>T (BTD)	NP_001268653.2:n.-275G>T
NM_001370658.1:c.-87G>T (BTD) MANE Select	NP_001357587.1:n.-87G>T
NM_001370752.1:c.-87G>T (BTD)	NP_001357681.1:n.-87G>T
NM_001370753.1:c.-87G>T (BTD)	NP_001357682.1:n.-87G>T
NM_001281726.2:c.-87G>T (BTD)	NP_001268655.2:n.-87G>T