Canonical Allele Identifier: CA2840464194

Gene: BTBD9

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.38398154T>G , CM000668.2:g.38398154T>G	GRCh38
NC_000006.11:g.38365930T>G , CM000668.1:g.38365930T>G	GRCh37
NC_000006.10:g.38473908T>G	NCBI36
NG_016545.1:g.246995A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481247.6:c.1155-53061A>C MANE Select	ENSP00000418751.1:n.1155-53061A>C
ENST00000649492.1:c.1155-53061A>C	ENSP00000497066.1:n.1155-53061A>C
ENST00000314100.10:c.951-53061A>C	ENSP00000323408.6:n.951-53061A>C
ENST00000328403.10:c.*63-53061A>C	ENSP00000328328.6:n.*63-53061A>C
ENST00000419706.6:c.1064+4663A>C	ENSP00000415365.2:n.1064+4663A>C
ENST00000481247.5:c.1155-53061A>C	ENSP00000418751.1:n.1155-53061A>C
NM_001099272.1:c.1155-53061A>C	NP_001092742.1:n.1155-53061A>C
NM_001172418.1:c.1064+4663A>C	NP_001165889.1:n.1064+4663A>C
NM_052893.1:c.1155-53061A>C	NP_443125.1:n.1155-53061A>C
NM_152733.2:c.951-53061A>C	NP_689946.2:n.951-53061A>C
XM_005248841.2:c.1155-53061A>C	XP_005248898.1:n.1155-53061A>C
XM_011514279.1:c.1155-53061A>C	XP_011512581.1:n.1155-53061A>C
XM_011514281.1:c.1155-52884A>C	XP_011512583.1:n.1155-52884A>C
XM_011514279.3:c.1155-53061A>C	XP_011512581.1:n.1155-53061A>C
XM_011514281.3:c.1155-52884A>C	XP_011512583.1:n.1155-52884A>C
NM_001099272.2:c.1155-53061A>C MANE Select	NP_001092742.1:n.1155-53061A>C
NM_052893.2:c.1155-53061A>C	NP_443125.1:n.1155-53061A>C
NM_001172418.2:c.1064+4663A>C	NP_001165889.1:n.1064+4663A>C
NM_152733.3:c.951-53061A>C	NP_689946.2:n.951-53061A>C