Canonical Allele Identifier: CA13632836
Gene: BRAP HGNC NCBI
gnomAD v2:
12:112123284 A / G
gnomAD v3:
12:111685480 A / G
gnomAD v4:
chr12-111685480-A-G
Joint Max Group AF 0.92771686 (EAS)
Genomes Max Group AF 0.92136836 (EAS)
Exomes Max Group AF 0.9253175 (EAS)
dbSNP:
601663
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.111685480A>G , CM000674.2:g.111685480A>G GRCh38
NC_000012.11:g.112123284A>G , CM000674.1:g.112123284A>G GRCh37
NC_000012.10:g.110607667A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000419234.9:c.82+231T>C MANE Select ENSP00000403524.3:n.82+231T>C
ENST00000327551.6:c.-9+108T>C ENSP00000330813.5:n.-9+108T>C
ENST00000419234.8:c.82+231T>C ENSP00000403524.3:n.82+231T>C
NM_006768.4:c.82+231T>C NP_006759.3:n.82+231T>C
XM_005253944.3:c.205+108T>C XP_005254001.1:n.205+108T>C
XM_011538789.1:c.-631+231T>C XP_011537091.1:n.-631+231T>C
XM_005253944.4:c.205+108T>C XP_005254001.1:n.205+108T>C
XM_011538789.3:c.-631+231T>C XP_011537091.1:n.-631+231T>C
XM_017019992.1:c.82+231T>C XP_016875481.1:n.82+231T>C
XM_017019993.1:c.-167+231T>C XP_016875482.1:n.-167+231T>C
XM_017019994.1:c.-5+231T>C XP_016875483.1:n.-5+231T>C
NM_006768.5:c.82+231T>C MANE Select NP_006759.3:n.82+231T>C
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