Canonical Allele Identifier: CA15687937
Gene: BTBD10 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.13388251A>T
GRCh37 chr11:g.13409798A>T
gnomAD v2:
11:13409798 A / T
gnomAD v3:
11:13388251 A / T
gnomAD v4:
chr11-13388251-A-T
Joint Max Group AF 0.23393122 (AMR)
Genomes Max Group AF 0.23353959 (AMR)
Exomes Max Group AF 0.21688706 (AMR)
dbSNP:
1044432
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.13388251A>T , CM000673.2:g.13388251A>T GRCh38
NC_000011.9:g.13409798A>T , CM000673.1:g.13409798A>T GRCh37
NC_000011.8:g.13366374A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000278174.10:c.*580T>A MANE Select ENSP00000278174.5:n.*580T>A
ENST00000278174.9:c.*580T>A ENSP00000278174.5:n.*580T>A
ENST00000527102.6:c.*1310T>A ENSP00000435303.2:n.*1310T>A
NM_001297741.1:c.*580T>A NP_001284670.1:n.*580T>A
NM_001297742.1:c.*580T>A NP_001284671.1:n.*580T>A
NM_032320.6:c.*580T>A NP_115696.2:n.*580T>A
XM_011520404.1:c.*580T>A XP_011518706.1:n.*580T>A
XM_017018405.1:c.*580T>A XP_016873894.1:n.*580T>A
XM_017018406.2:c.*580T>A XP_016873895.1:n.*580T>A
XM_017018409.1:c.*580T>A XP_016873898.1:n.*580T>A
XM_017018410.1:c.*580T>A XP_016873899.1:n.*580T>A
XM_017018411.1:c.*580T>A XP_016873900.1:n.*580T>A
XM_024448712.1:c.*580T>A XP_024304480.1:n.*580T>A
XM_024448713.1:c.*580T>A XP_024304481.1:n.*580T>A
XR_001748000.2:n.3369T>A
XR_001748001.2:n.2349T>A
XR_001748002.2:n.2204T>A
NM_001297741.2:c.*580T>A NP_001284670.1:n.*580T>A
NM_001297742.2:c.*580T>A NP_001284671.1:n.*580T>A
NM_032320.7:c.*580T>A MANE Select NP_115696.2:n.*580T>A
Search 100 bp 5'
Search 100 bp 3'