Canonical Allele Identifier: CA3759438
Gene: BAK1 HGNC NCBI
GGNBP1 HGNC NCBI
COSMIC:
COSN15314256 (not active)
COSN20337820 (not active)
MyVariant.info:
GRCh38 chr6:g.33573942A>G
GRCh37 chr6:g.33541719A>G
gnomAD v2:
6:33541719 A / G
gnomAD v3:
6:33573942 A / G
gnomAD v4:
chr6-33573942-A-G
Joint Max Group AF 0.72978538 (SAS)
Genomes Max Group AF 0.74902239 (EAS)
Exomes Max Group AF 0.72908511 (SAS)
dbSNP:
513349
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33573942A>G , CM000668.2:g.33573942A>G GRCh38
NC_000006.11:g.33541719A>G , CM000668.1:g.33541719A>G GRCh37
NC_000006.10:g.33649697A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000374467.4:c.532-35T>C (BAK1) MANE Select ENSP00000363591.3:n.532-35T>C
ENST00000360661.9:c.472-35T>C (BAK1) ENSP00000353878.6:n.472-35T>C
ENST00000374467.3:c.532-35T>C (BAK1) ENSP00000363591.3:n.532-35T>C
ENST00000442998.6:c.*90-35T>C (BAK1) ENSP00000391258.2:n.*90-35T>C
ENST00000612409.1:n.249-1409A>G (GGNBP1)
NM_001188.3:c.532-35T>C (BAK1) NP_001179.1:n.532-35T>C
XM_011514779.1:c.532-35T>C (BAK1) XP_011513081.1:n.532-35T>C
XM_011514780.1:c.355-35T>C (BAK1) XP_011513082.1:n.355-35T>C
XM_011514779.3:c.532-35T>C (BAK1) XP_011513081.1:n.532-35T>C
NM_001188.4:c.532-35T>C (BAK1) MANE Select NP_001179.1:n.532-35T>C
Search 100 bp 5'
Search 100 bp 3'