Canonical Allele Identifier: CA2612557137

Gene: BTBD10

Linked Data

• gnomAD v4: 11-13388175-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.13388175C>A , CM000673.2:g.13388175C>A	GRCh38
NC_000011.9:g.13409722C>A , CM000673.1:g.13409722C>A	GRCh37
NC_000011.8:g.13366298C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000278174.10:c.*656G>T MANE Select	ENSP00000278174.5:n.*656G>T
ENST00000278174.9:c.*656G>T	ENSP00000278174.5:n.*656G>T
ENST00000527102.6:c.*1386G>T	ENSP00000435303.2:n.*1386G>T
NM_001297741.1:c.*656G>T	NP_001284670.1:n.*656G>T
NM_001297742.1:c.*656G>T	NP_001284671.1:n.*656G>T
NM_032320.6:c.*656G>T	NP_115696.2:n.*656G>T
XM_011520404.1:c.*656G>T	XP_011518706.1:n.*656G>T
XM_017018405.1:c.*656G>T	XP_016873894.1:n.*656G>T
XM_017018406.2:c.*656G>T	XP_016873895.1:n.*656G>T
XM_017018409.1:c.*656G>T	XP_016873898.1:n.*656G>T
XM_017018410.1:c.*656G>T	XP_016873899.1:n.*656G>T
XM_017018411.1:c.*656G>T	XP_016873900.1:n.*656G>T
XM_024448712.1:c.*656G>T	XP_024304480.1:n.*656G>T
XM_024448713.1:c.*656G>T	XP_024304481.1:n.*656G>T
XR_001748000.2:n.3445G>T
XR_001748001.2:n.2425G>T
XR_001748002.2:n.2280G>T
NM_001297741.2:c.*656G>T	NP_001284670.1:n.*656G>T
NM_001297742.2:c.*656G>T	NP_001284671.1:n.*656G>T
NM_032320.7:c.*656G>T MANE Select	NP_115696.2:n.*656G>T