Canonical Allele Identifier: CA220331
Gene: BTD HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 25029
dbSNP Id: rs112195009

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.15644488G>A , CM000665.2:g.15644488G>A GRCh38
NC_000003.11:g.15685995G>A , CM000665.1:g.15685995G>A GRCh37
NC_000003.10:g.15660999G>A NCBI36
NG_008019.1:g.47741G>A

Transcript Alleles

HGVS Amino-acid change
NM_000060.3:c.632G>A VV NP_000051.1:p.Arg211His
NM_001281723.1:c.638G>A VV NP_001268652.1:p.Arg213His
NM_001281724.1:c.638G>A VV NP_001268653.1:p.Arg213His
NM_001281725.1:c.572G>A VV NP_001268654.1:p.Arg191His
XM_006713314.2:c.572G>A XP_006713377.1:p.Arg191His
XM_011534041.1:c.572G>A XP_011532343.1:p.Arg191His
NM_000060.4:c.632G>A VV
NM_001281723.2:c.638G>A VV
NM_001281724.2:c.638G>A VV
NM_001281725.2:c.572G>A VV
NM_001323582.1:c.572G>A VV NP_001310511.1:p.Arg191His
XM_011534041.2:c.572G>A
XM_017007088.1:c.572G>A XP_016862577.1:p.Arg191His
XM_024453724.1:c.572G>A XP_024309492.1:p.Arg191His
ENST00000303498.9:c.632G>A ENSP00000306477.5:p.Arg211His
ENST00000383778.5:c.572G>A ENSP00000373288.4:p.Arg191His
ENST00000436193.5:c.572G>A ENSP00000394277.1:p.Arg191His
ENST00000437172.5:c.638G>A ENSP00000400995.1:p.Arg213His
ENST00000449107.5:c.638G>A ENSP00000388212.1:p.Arg213His