Canonical Allele Identifier: CA16040906

Gene: BTD

Linked Data

• ClinVar Variation Id: 370391
• ClinVar RCV Id: RCV000410337
• dbSNP Id: rs1057516440
• MyVariant Identifiers: chr3:g.15643402G>C (hg19) ; chr3:g.15601895G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15601895G>C , CM000665.2:g.15601895G>C	GRCh38
NC_000003.11:g.15643402G>C , CM000665.1:g.15643402G>C	GRCh37
NC_000003.10:g.15618406G>C	NCBI36
NG_008019.1:g.5148G>C
NG_008019.2:g.5544G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000671928.2:c.-17+1G>C	ENSP00000500069.2:n.-17+1G>C
ENST00000672892.2:c.-17+1G>C	ENSP00000499944.2:n.-17+1G>C
ENST00000303498.10:c.-293+1G>C	ENSP00000306477.6:n.-293+1G>C
ENST00000417015.3:c.-17+1G>C	ENSP00000403775.3:n.-17+1G>C
ENST00000427382.2:c.-17+248G>C	ENSP00000397113.2:n.-17+248G>C
ENST00000437172.6:c.-205+1G>C	ENSP00000400995.2:n.-205+1G>C
ENST00000449107.7:c.-17+125G>C	ENSP00000388212.2:n.-17+125G>C
ENST00000467027.6:n.132G>C
ENST00000643237.3:c.-17+1G>C MANE Select	ENSP00000495254.2:n.-17+1G>C
ENST00000646371.1:c.-293+125G>C	ENSP00000495866.1:n.-293+125G>C
ENST00000672065.1:c.44+1G>C	ENSP00000500403.1:n.44+1G>C
ENST00000672112.1:c.-139+1G>C	ENSP00000500193.1:n.-139+1G>C
ENST00000672141.1:c.-17+1G>C	ENSP00000500210.1:n.-17+1G>C
ENST00000672336.1:c.-708G>C	ENSP00000500267.1:n.-708G>C
ENST00000672427.1:c.-17+1G>C	ENSP00000500131.1:n.-17+1G>C
ENST00000672760.1:c.-17+1G>C	ENSP00000500530.1:n.-17+1G>C
ENST00000672968.1:n.20+125G>C
ENST00000673467.1:c.-17+1G>C	ENSP00000500288.1:n.-17+1G>C
ENST00000673620.1:c.-17+125G>C	ENSP00000500325.1:n.-17+125G>C
ENST00000303498.9:c.44+1G>C	ENSP00000306477.5:n.44+1G>C
ENST00000417015.1:c.*295+1G>C	ENSP00000403775.1:n.*295+1G>C
ENST00000427382.1:c.-17+248G>C	ENSP00000397113.1:n.-17+248G>C
ENST00000437172.5:c.-139+1G>C	ENSP00000400995.1:n.-139+1G>C
ENST00000449107.5:c.50+125G>C	ENSP00000388212.1:n.50+125G>C
ENST00000467027.5:n.94+1G>C
ENST00000471964.5:n.124+1G>C
ENST00000480711.1:n.147+1G>C
ENST00000494021.1:n.401+125G>C
NM_000060.3:c.44+1G>C	NP_000051.1:n.44+1G>C
NM_001281723.1:c.50+125G>C	NP_001268652.1:n.50+125G>C
NM_001281724.1:c.-139+1G>C	NP_001268653.1:n.-139+1G>C
NM_001281726.1:c.44+1G>C	NP_001268655.1:n.44+1G>C
XM_006713314.2:c.-293+1G>C	XP_006713377.1:n.-293+1G>C
XM_011534041.1:c.-191+1G>C	XP_011532343.1:n.-191+1G>C
NM_000060.4:c.44+1G>C	NP_000051.1:n.44+1G>C
NM_001281723.2:c.50+125G>C	NP_001268652.1:n.50+125G>C
NM_001281724.2:c.-139+1G>C	NP_001268653.1:n.-139+1G>C
NM_001323582.1:c.-293+1G>C	NP_001310511.1:n.-293+1G>C
XM_011534041.2:c.-191+1G>C	XP_011532343.1:n.-191+1G>C
XM_017007088.1:c.-467+1G>C	XP_016862577.1:n.-467+1G>C
NM_001281723.3:c.-17+125G>C	NP_001268652.2:n.-17+125G>C
NM_001281724.3:c.-205+1G>C	NP_001268653.2:n.-205+1G>C
NM_001370658.1:c.-17+1G>C MANE Select	NP_001357587.1:n.-17+1G>C
NM_001370752.1:c.-17+1G>C	NP_001357681.1:n.-17+1G>C
NM_001370753.1:c.-17+1G>C	NP_001357682.1:n.-17+1G>C
NM_001281726.2:c.-17+1G>C	NP_001268655.2:n.-17+1G>C