Canonical Allele Identifier: CA2277184

Gene: BTD

Linked Data

• dbSNP Id: rs752826506
• ExAC: 3:15643397 A / G
• gnomAD v2: 3-15643397-A-G
• gnomAD v4: 3-15601890-A-G
• MyVariant Identifiers: chr3:g.15643397A>G (hg19) ; chr3:g.15601890A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601890A>G , CM000665.2:g.15601890A>G	GRCh38
NC_000003.11:g.15643397A>G , CM000665.1:g.15643397A>G	GRCh37
NC_000003.10:g.15618401A>G	NCBI36
NG_008019.1:g.5143A>G
NG_008019.2:g.5539A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000671928.2:c.-21A>G	ENSP00000500069.2:n.-21A>G
ENST00000672892.2:c.-21A>G	ENSP00000499944.2:n.-21A>G
ENST00000303498.10:c.-297A>G	ENSP00000306477.6:n.-297A>G
ENST00000417015.3:c.-21A>G	ENSP00000403775.3:n.-21A>G
ENST00000427382.2:c.-17+243A>G	ENSP00000397113.2:n.-17+243A>G
ENST00000437172.6:c.-209A>G	ENSP00000400995.2:n.-209A>G
ENST00000449107.7:c.-17+120A>G	ENSP00000388212.2:n.-17+120A>G
ENST00000467027.6:n.127A>G
ENST00000643237.3:c.-21A>G MANE Select	ENSP00000495254.2:n.-21A>G
ENST00000646371.1:c.-293+120A>G	ENSP00000495866.1:n.-293+120A>G
ENST00000672065.1:c.40A>G	ENSP00000500403.1:p.Ser14Gly
ENST00000672112.1:c.-143A>G	ENSP00000500193.1:n.-143A>G
ENST00000672141.1:c.-21A>G	ENSP00000500210.1:n.-21A>G
ENST00000672336.1:c.-713A>G	ENSP00000500267.1:n.-713A>G
ENST00000672427.1:c.-21A>G	ENSP00000500131.1:n.-21A>G
ENST00000672760.1:c.-21A>G	ENSP00000500530.1:n.-21A>G
ENST00000672968.1:n.20+120A>G
ENST00000673467.1:c.-21A>G	ENSP00000500288.1:n.-21A>G
ENST00000673620.1:c.-17+120A>G	ENSP00000500325.1:n.-17+120A>G
ENST00000303498.9:c.40A>G	ENSP00000306477.5:p.Ser14Gly
ENST00000417015.1:c.*291A>G	ENSP00000403775.1:n.*291A>G
ENST00000427382.1:c.-17+243A>G	ENSP00000397113.1:n.-17+243A>G
ENST00000437172.5:c.-143A>G	ENSP00000400995.1:n.-143A>G
ENST00000449107.5:c.50+120A>G	ENSP00000388212.1:n.50+120A>G
ENST00000467027.5:n.90A>G
ENST00000471964.5:n.120A>G
ENST00000480711.1:n.143A>G
ENST00000494021.1:n.401+120A>G
NM_000060.3:c.40A>G	NP_000051.1:p.Ser14Gly
NM_001281723.1:c.50+120A>G	NP_001268652.1:n.50+120A>G
NM_001281724.1:c.-143A>G	NP_001268653.1:n.-143A>G
NM_001281726.1:c.40A>G	NP_001268655.1:p.Ser14Gly
XM_006713314.2:c.-297A>G	XP_006713377.1:n.-297A>G
XM_011534041.1:c.-195A>G	XP_011532343.1:n.-195A>G
NM_000060.4:c.40A>G	NP_000051.1:p.Ser14Gly
NM_001281723.2:c.50+120A>G	NP_001268652.1:n.50+120A>G
NM_001281724.2:c.-143A>G	NP_001268653.1:n.-143A>G
NM_001323582.1:c.-297A>G	NP_001310511.1:n.-297A>G
XM_011534041.2:c.-195A>G	XP_011532343.1:n.-195A>G
XM_017007088.1:c.-471A>G	XP_016862577.1:n.-471A>G
NM_001281723.3:c.-17+120A>G	NP_001268652.2:n.-17+120A>G
NM_001281724.3:c.-209A>G	NP_001268653.2:n.-209A>G
NM_001370658.1:c.-21A>G MANE Select	NP_001357587.1:n.-21A>G
NM_001370752.1:c.-21A>G	NP_001357681.1:n.-21A>G
NM_001370753.1:c.-21A>G	NP_001357682.1:n.-21A>G
NM_001281726.2:c.-21A>G	NP_001268655.2:n.-21A>G