Canonical Allele Identifier: CA2581115717

Gene: ABCB9

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.122929802T>G , CM000674.2:g.122929802T>G	GRCh38
NC_000012.11:g.123414349T>G , CM000674.1:g.123414349T>G	GRCh37
NC_000012.10:g.121980302T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280560.13:c.*109A>C MANE Select	ENSP00000280560.8:n.*109A>C
ENST00000280560.12:c.*109A>C	ENSP00000280560.8:n.*109A>C
ENST00000344275.11:c.2040+2390A>C	ENSP00000456813.1:n.2040+2390A>C
ENST00000346530.9:c.*109A>C	ENSP00000280559.7:n.*109A>C
ENST00000392439.7:c.*109A>C	ENSP00000376234.3:n.*109A>C
ENST00000442028.6:c.*109A>C	ENSP00000394898.2:n.*109A>C
ENST00000442833.6:c.2040+2390A>C	ENSP00000456375.1:n.2040+2390A>C
ENST00000540285.5:c.*109A>C	ENSP00000441734.1:n.*109A>C
ENST00000542678.5:c.*109A>C	ENSP00000440288.1:n.*109A>C
NM_001243013.1:c.*109A>C	NP_001229942.1:n.*109A>C
NM_001243014.1:c.2040+2390A>C	NP_001229943.1:n.2040+2390A>C
NM_019624.3:c.*109A>C	NP_062570.1:n.*109A>C
NM_019625.3:c.*109A>C	NP_062571.1:n.*109A>C
NM_203444.3:c.2040+2390A>C	NP_982269.2:n.2040+2390A>C
XM_005253558.1:c.*109A>C	XP_005253615.1:n.*109A>C
XM_011538095.1:c.*109A>C	XP_011536397.1:n.*109A>C
XM_011538096.1:c.*109A>C	XP_011536398.1:n.*109A>C
XM_011538097.1:c.2040+2390A>C	XP_011536399.1:n.2040+2390A>C
XM_011538098.1:c.*109A>C	XP_011536400.1:n.*109A>C
XR_429086.2:n.2314+2390A>C
XR_944513.1:n.2314+2390A>C
XM_005253558.2:c.*109A>C	XP_005253615.1:n.*109A>C
XM_011538095.2:c.*109A>C	XP_011536397.1:n.*109A>C
XM_011538096.2:c.*109A>C	XP_011536398.1:n.*109A>C
XM_011538098.2:c.*109A>C	XP_011536400.1:n.*109A>C
XM_017019103.1:c.*109A>C	XP_016874592.1:n.*109A>C
XM_024448908.1:c.*109A>C	XP_024304676.1:n.*109A>C
XR_001748645.2:n.2304+2390A>C
XR_001748646.2:n.2115+2390A>C
XR_001748647.2:n.2115+2390A>C
XR_001748648.2:n.2290+2390A>C
XR_002957301.1:n.2092+2390A>C
XR_429086.4:n.2304+2390A>C
NM_019625.4:c.*109A>C MANE Select	NP_062571.1:n.*109A>C
NM_001243013.2:c.*109A>C	NP_001229942.1:n.*109A>C
NM_001243014.2:c.2040+2390A>C	NP_001229943.1:n.2040+2390A>C
NM_203444.4:c.2040+2390A>C	NP_982269.2:n.2040+2390A>C
NM_019624.4:c.*109A>C	NP_062570.1:n.*109A>C