Canonical Allele Identifier: CA70636230

Gene: BTD

Linked Data

• dbSNP Id: rs111312650
• gnomAD v2: 3-15643689-G-A
• gnomAD v3: 3-15602182-G-A
• gnomAD v4: 3-15602182-G-A
• MyVariant Identifiers: chr3:g.15643689G>A (hg19) ; chr3:g.15602182G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15602182G>A , CM000665.2:g.15602182G>A	GRCh38
NC_000003.11:g.15643689G>A , CM000665.1:g.15643689G>A	GRCh37
NC_000003.10:g.15618693G>A	NCBI36
NG_008019.1:g.5435G>A
NG_008019.2:g.5831G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436193.6:c.-145G>A	ENSP00000394277.2:n.-145G>A
ENST00000671928.2:c.-17+288G>A	ENSP00000500069.2:n.-17+288G>A
ENST00000672892.2:c.-17+288G>A	ENSP00000499944.2:n.-17+288G>A
ENST00000303498.10:c.-293+288G>A	ENSP00000306477.6:n.-293+288G>A
ENST00000417015.3:c.-17+288G>A	ENSP00000403775.3:n.-17+288G>A
ENST00000427382.2:c.-17+535G>A	ENSP00000397113.2:n.-17+535G>A
ENST00000437172.6:c.-205+288G>A	ENSP00000400995.2:n.-205+288G>A
ENST00000449107.7:c.-17+412G>A	ENSP00000388212.2:n.-17+412G>A
ENST00000467027.6:n.419G>A
ENST00000642517.1:n.45G>A
ENST00000643237.3:c.-17+288G>A MANE Select	ENSP00000495254.2:n.-17+288G>A
ENST00000646371.1:c.-293+412G>A	ENSP00000495866.1:n.-293+412G>A
ENST00000672065.1:c.44+288G>A	ENSP00000500403.1:n.44+288G>A
ENST00000672112.1:c.-139+288G>A	ENSP00000500193.1:n.-139+288G>A
ENST00000672141.1:c.-17+288G>A	ENSP00000500210.1:n.-17+288G>A
ENST00000672336.1:c.-421G>A	ENSP00000500267.1:n.-421G>A
ENST00000672427.1:c.-17+288G>A	ENSP00000500131.1:n.-17+288G>A
ENST00000672760.1:c.-17+288G>A	ENSP00000500530.1:n.-17+288G>A
ENST00000672968.1:n.20+412G>A
ENST00000673467.1:c.-17+288G>A	ENSP00000500288.1:n.-17+288G>A
ENST00000673620.1:c.-17+412G>A	ENSP00000500325.1:n.-17+412G>A
ENST00000303498.9:c.44+288G>A	ENSP00000306477.5:n.44+288G>A
ENST00000383778.5:c.-145G>A	ENSP00000373288.4:n.-145G>A
ENST00000417015.1:c.*295+288G>A	ENSP00000403775.1:n.*295+288G>A
ENST00000427382.1:c.-17+535G>A	ENSP00000397113.1:n.-17+535G>A
ENST00000436193.5:c.-145G>A	ENSP00000394277.1:n.-145G>A
ENST00000437172.5:c.-139+288G>A	ENSP00000400995.1:n.-139+288G>A
ENST00000449107.5:c.50+412G>A	ENSP00000388212.1:n.50+412G>A
ENST00000467027.5:n.94+288G>A
ENST00000471964.5:n.170G>A
ENST00000480711.1:n.147+288G>A
ENST00000494021.1:n.401+412G>A
NM_000060.3:c.44+288G>A	NP_000051.1:n.44+288G>A
NM_001281723.1:c.50+412G>A	NP_001268652.1:n.50+412G>A
NM_001281724.1:c.-139+288G>A	NP_001268653.1:n.-139+288G>A
NM_001281725.1:c.-145G>A	NP_001268654.1:n.-145G>A
NM_001281726.1:c.44+288G>A	NP_001268655.1:n.44+288G>A
XM_006713314.2:c.-293+288G>A	XP_006713377.1:n.-293+288G>A
XM_011534041.1:c.-145G>A	XP_011532343.1:n.-145G>A
NM_000060.4:c.44+288G>A	NP_000051.1:n.44+288G>A
NM_001281723.2:c.50+412G>A	NP_001268652.1:n.50+412G>A
NM_001281724.2:c.-139+288G>A	NP_001268653.1:n.-139+288G>A
NM_001281725.2:c.-145G>A	NP_001268654.1:n.-145G>A
NM_001323582.1:c.-293+288G>A	NP_001310511.1:n.-293+288G>A
XM_011534041.2:c.-145G>A	XP_011532343.1:n.-145G>A
XM_017007088.1:c.-421G>A	XP_016862577.1:n.-421G>A
NM_001281723.3:c.-17+412G>A	NP_001268652.2:n.-17+412G>A
NM_001281724.3:c.-205+288G>A	NP_001268653.2:n.-205+288G>A
NM_001370658.1:c.-17+288G>A MANE Select	NP_001357587.1:n.-17+288G>A
NM_001370752.1:c.-17+288G>A	NP_001357681.1:n.-17+288G>A
NM_001370753.1:c.-17+288G>A	NP_001357682.1:n.-17+288G>A
NM_001281726.2:c.-17+288G>A	NP_001268655.2:n.-17+288G>A