Canonical Allele Identifier: CA13749205
Gene: ABCB9 HGNC NCBI
gnomAD v2:
12:123457619 C / T
gnomAD v3:
12:122973072 C / T
gnomAD v4:
chr12-122973072-C-T
Joint Max Group AF 0.70597593 (NFE)
Genomes Max Group AF 0.70598096 (NFE)
Exomes Max Group AF 0.38556286 (NFE)
dbSNP:
7296418
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.122973072C>T , CM000674.2:g.122973072C>T GRCh38
NC_000012.11:g.123457619C>T , CM000674.1:g.123457619C>T GRCh37
NC_000012.10:g.122023572C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000392439.7:c.-88+1643G>A ENSP00000376234.3:n.-88+1643G>A
ENST00000442028.6:c.-88+1643G>A ENSP00000394898.2:n.-88+1643G>A
ENST00000542678.5:c.-88+5826G>A ENSP00000440288.1:n.-88+5826G>A
ENST00000543935.1:c.-117G>A ENSP00000443382.1:n.-117G>A
ENST00000622723.1:n.162G>A
XM_011538095.1:c.-88+1643G>A XP_011536397.1:n.-88+1643G>A
XM_011538096.1:c.-88+1443G>A XP_011536398.1:n.-88+1443G>A
XM_011538095.2:c.-88+1643G>A XP_011536397.1:n.-88+1643G>A
XM_011538096.2:c.-88+1443G>A XP_011536398.1:n.-88+1443G>A
XM_017019103.1:c.-117G>A XP_016874592.1:n.-117G>A
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