Canonical Allele Identifier: CA12268022

Gene: BTBD9

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.38515788T>C , CM000668.2:g.38515788T>C	GRCh38
NC_000006.11:g.38483564T>C , CM000668.1:g.38483564T>C	GRCh37
NC_000006.10:g.38591542T>C	NCBI36
NG_016545.1:g.129361A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001099272.2:c.1154+61812A>G MANE Select	NP_001092742.1:n.1154+61812A>G
ENST00000481247.6:c.1154+61812A>G MANE Select	ENSP00000418751.1:n.1154+61812A>G
NM_001099272.1:c.1154+61812A>G	NP_001092742.1:n.1154+61812A>G
NM_001172418.1:c.977+61812A>G	NP_001165889.1:n.977+61812A>G
NM_001172418.2:c.977+61812A>G	NP_001165889.1:n.977+61812A>G
NM_052893.1:c.1154+61812A>G	NP_443125.1:n.1154+61812A>G
NM_052893.2:c.1154+61812A>G	NP_443125.1:n.1154+61812A>G
NM_152733.2:c.950+61812A>G	NP_689946.2:n.950+61812A>G
NM_152733.3:c.950+61812A>G	NP_689946.2:n.950+61812A>G
ENST00000314100.10:c.950+61812A>G	ENSP00000323408.6:n.950+61812A>G
ENST00000328403.10:c.951-11226A>G	ENSP00000328328.6:n.951-11226A>G
ENST00000419706.6:c.977+61812A>G	ENSP00000415365.2:n.977+61812A>G
ENST00000481247.5:c.1154+61812A>G	ENSP00000418751.1:n.1154+61812A>G
ENST00000649492.1:c.1154+61812A>G	ENSP00000497066.1:n.1154+61812A>G
XM_005248841.2:c.1154+61812A>G	XP_005248898.1:n.1154+61812A>G
XM_011514279.1:c.1154+61812A>G	XP_011512581.1:n.1154+61812A>G
XM_011514279.3:c.1154+61812A>G	XP_011512581.1:n.1154+61812A>G
XM_011514281.1:c.1154+61812A>G	XP_011512583.1:n.1154+61812A>G
XM_011514281.3:c.1154+61812A>G	XP_011512583.1:n.1154+61812A>G