Canonical Allele Identifier: CA285304
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 1902
dbSNP Id: rs80338685
gnomAD v2: 3-15686731-A-C
gnomAD v3: 3-15645224-A-C
gnomAD v4: 3-15645224-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.15645224A>C , CM000665.2:g.15645224A>C GRCh38
NC_000003.11:g.15686731A>C , CM000665.1:g.15686731A>C GRCh37
NC_000003.10:g.15661735A>C NCBI36
NG_008019.1:g.48477A>C
NG_008019.2:g.48873A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000436193.6:c.1308A>C ENSP00000394277.2:p.Gln436His
ENST00000671928.2:c.399+3167A>C ENSP00000500069.2:n.399+3167A>C
ENST00000672892.2:c.1015+293A>C ENSP00000499944.2:n.1015+293A>C
ENST00000303498.10:c.1308A>C ENSP00000306477.6:p.Gln436His
ENST00000427382.2:c.1308A>C ENSP00000397113.2:p.Gln436His
ENST00000437172.6:c.1308A>C ENSP00000400995.2:p.Gln436His
ENST00000449107.7:c.1308A>C ENSP00000388212.2:p.Gln436His
ENST00000643237.3:c.1308A>C MANE Select ENSP00000495254.2:p.Gln436His
ENST00000646371.1:c.1308A>C ENSP00000495866.1:p.Gln436His
ENST00000671928.1:c.165+3167A>C ENSP00000500069.1:n.165+3167A>C
ENST00000672065.1:c.1368A>C ENSP00000500403.1:p.Gln456His
ENST00000672112.1:c.1374A>C ENSP00000500193.1:p.Gln458His
ENST00000672141.1:c.399+3167A>C ENSP00000500210.1:n.399+3167A>C
ENST00000672427.1:c.1015+293A>C ENSP00000500131.1:n.1015+293A>C
ENST00000672760.1:c.399+3167A>C ENSP00000500530.1:n.399+3167A>C
ENST00000672892.1:c.793+293A>C ENSP00000499944.1:n.793+293A>C
ENST00000673467.1:c.399+3167A>C ENSP00000500288.1:n.399+3167A>C
ENST00000673620.1:c.399+3167A>C ENSP00000500325.1:n.399+3167A>C
ENST00000303498.9:c.1368A>C ENSP00000306477.5:p.Gln456His
ENST00000383778.5:c.1308A>C ENSP00000373288.4:p.Gln436His
ENST00000437172.5:c.1374A>C ENSP00000400995.1:p.Gln458His
ENST00000449107.5:c.1374A>C ENSP00000388212.1:p.Gln458His
NM_000060.3:c.1368A>C NP_000051.1:p.Gln456His
NM_001281723.1:c.1374A>C NP_001268652.1:p.Gln458His
NM_001281724.1:c.1374A>C NP_001268653.1:p.Gln458His
NM_001281725.1:c.1308A>C NP_001268654.1:p.Gln436His
XM_006713314.2:c.1308A>C XP_006713377.1:p.Gln436His
XM_011534041.1:c.1308A>C XP_011532343.1:p.Gln436His
NM_000060.4:c.1368A>C NP_000051.1:p.Gln456His
NM_001281723.2:c.1374A>C NP_001268652.1:p.Gln458His
NM_001281724.2:c.1374A>C NP_001268653.1:p.Gln458His
NM_001281725.2:c.1308A>C NP_001268654.1:p.Gln436His
NM_001323582.1:c.1308A>C NP_001310511.1:p.Gln436His
XM_011534041.2:c.1308A>C XP_011532343.1:p.Gln436His
XM_017007088.1:c.1308A>C XP_016862577.1:p.Gln436His
XM_024453724.1:c.1308A>C XP_024309492.1:p.Gln436His
NM_001281723.3:c.1308A>C NP_001268652.2:p.Gln436His
NM_001281724.3:c.1308A>C NP_001268653.2:p.Gln436His
NM_001370658.1:c.1308A>C MANE Select NP_001357587.1:p.Gln436His
NM_001370752.1:c.1015+293A>C NP_001357681.1:n.1015+293A>C
NM_001370753.1:c.399+3167A>C NP_001357682.1:n.399+3167A>C
NM_001281726.2:c.*3086A>C NP_001268655.2:n.*3086A>C