Canonical Allele Identifier: CA2664666509

Gene: BTD

Linked Data

• gnomAD v4: 3-15602081-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15602081A>G , CM000665.2:g.15602081A>G	GRCh38
NC_000003.11:g.15643588A>G , CM000665.1:g.15643588A>G	GRCh37
NC_000003.10:g.15618592A>G	NCBI36
NG_008019.1:g.5334A>G
NG_008019.2:g.5730A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436193.6:c.-246A>G	ENSP00000394277.2:n.-246A>G
ENST00000671928.2:c.-17+187A>G	ENSP00000500069.2:n.-17+187A>G
ENST00000672892.2:c.-17+187A>G	ENSP00000499944.2:n.-17+187A>G
ENST00000303498.10:c.-293+187A>G	ENSP00000306477.6:n.-293+187A>G
ENST00000417015.3:c.-17+187A>G	ENSP00000403775.3:n.-17+187A>G
ENST00000427382.2:c.-17+434A>G	ENSP00000397113.2:n.-17+434A>G
ENST00000437172.6:c.-205+187A>G	ENSP00000400995.2:n.-205+187A>G
ENST00000449107.7:c.-17+311A>G	ENSP00000388212.2:n.-17+311A>G
ENST00000467027.6:n.318A>G
ENST00000643237.3:c.-17+187A>G MANE Select	ENSP00000495254.2:n.-17+187A>G
ENST00000646371.1:c.-293+311A>G	ENSP00000495866.1:n.-293+311A>G
ENST00000672065.1:c.44+187A>G	ENSP00000500403.1:n.44+187A>G
ENST00000672112.1:c.-139+187A>G	ENSP00000500193.1:n.-139+187A>G
ENST00000672141.1:c.-17+187A>G	ENSP00000500210.1:n.-17+187A>G
ENST00000672336.1:c.-522A>G	ENSP00000500267.1:n.-522A>G
ENST00000672427.1:c.-17+187A>G	ENSP00000500131.1:n.-17+187A>G
ENST00000672760.1:c.-17+187A>G	ENSP00000500530.1:n.-17+187A>G
ENST00000672968.1:n.20+311A>G
ENST00000673467.1:c.-17+187A>G	ENSP00000500288.1:n.-17+187A>G
ENST00000673620.1:c.-17+311A>G	ENSP00000500325.1:n.-17+311A>G
ENST00000303498.9:c.44+187A>G	ENSP00000306477.5:n.44+187A>G
ENST00000383778.5:c.-246A>G	ENSP00000373288.4:n.-246A>G
ENST00000417015.1:c.*295+187A>G	ENSP00000403775.1:n.*295+187A>G
ENST00000427382.1:c.-17+434A>G	ENSP00000397113.1:n.-17+434A>G
ENST00000436193.5:c.-246A>G	ENSP00000394277.1:n.-246A>G
ENST00000437172.5:c.-139+187A>G	ENSP00000400995.1:n.-139+187A>G
ENST00000449107.5:c.50+311A>G	ENSP00000388212.1:n.50+311A>G
ENST00000467027.5:n.94+187A>G
ENST00000471964.5:n.125-56A>G
ENST00000480711.1:n.147+187A>G
ENST00000494021.1:n.401+311A>G
NM_000060.3:c.44+187A>G	NP_000051.1:n.44+187A>G
NM_001281723.1:c.50+311A>G	NP_001268652.1:n.50+311A>G
NM_001281724.1:c.-139+187A>G	NP_001268653.1:n.-139+187A>G
NM_001281725.1:c.-246A>G	NP_001268654.1:n.-246A>G
NM_001281726.1:c.44+187A>G	NP_001268655.1:n.44+187A>G
XM_006713314.2:c.-293+187A>G	XP_006713377.1:n.-293+187A>G
XM_011534041.1:c.-190-56A>G	XP_011532343.1:n.-190-56A>G
NM_000060.4:c.44+187A>G	NP_000051.1:n.44+187A>G
NM_001281723.2:c.50+311A>G	NP_001268652.1:n.50+311A>G
NM_001281724.2:c.-139+187A>G	NP_001268653.1:n.-139+187A>G
NM_001281725.2:c.-246A>G	NP_001268654.1:n.-246A>G
NM_001323582.1:c.-293+187A>G	NP_001310511.1:n.-293+187A>G
XM_011534041.2:c.-190-56A>G	XP_011532343.1:n.-190-56A>G
XM_017007088.1:c.-466-56A>G	XP_016862577.1:n.-466-56A>G
NM_001281723.3:c.-17+311A>G	NP_001268652.2:n.-17+311A>G
NM_001281724.3:c.-205+187A>G	NP_001268653.2:n.-205+187A>G
NM_001370658.1:c.-17+187A>G MANE Select	NP_001357587.1:n.-17+187A>G
NM_001370752.1:c.-17+187A>G	NP_001357681.1:n.-17+187A>G
NM_001370753.1:c.-17+187A>G	NP_001357682.1:n.-17+187A>G
NM_001281726.2:c.-17+187A>G	NP_001268655.2:n.-17+187A>G