Canonical Allele Identifier: CA12232442
Gene: BAK1 HGNC NCBI
GGNBP1 HGNC NCBI
dbSNP:
5745582
gnomAD v2:
6:33546498 C / T
gnomAD v3:
6:33578721 C / T
gnomAD v4:
chr6-33578721-C-T
Joint Max Group AF 0.33164775 (SAS)
Genomes Max Group AF 0.33164775 (SAS)
MyVariant.info:
GRCh38 chr6:g.33578721C>T
GRCh37 chr6:g.33546498C>T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33578721C>T , CM000668.2:g.33578721C>T GRCh38
NC_000006.11:g.33546498C>T , CM000668.1:g.33546498C>T GRCh37
NC_000006.10:g.33654476C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000374467.4:c.-31-1086G>A (BAK1) MANE Select ENSP00000363591.3:n.-31-1086G>A
ENST00000360661.9:c.-31-1086G>A (BAK1) ENSP00000353878.6:n.-31-1086G>A
ENST00000374467.3:c.-31-1086G>A (BAK1) ENSP00000363591.3:n.-31-1086G>A
ENST00000442998.6:c.-31-1086G>A (BAK1) ENSP00000391258.2:n.-31-1086G>A
ENST00000612409.1:n.362+3257C>T (GGNBP1)
NM_001188.3:c.-31-1086G>A (BAK1) NP_001179.1:n.-31-1086G>A
XM_011514779.1:c.-142-813G>A (BAK1) XP_011513081.1:n.-142-813G>A
XM_011514780.1:c.-146-1086G>A (BAK1) XP_011513082.1:n.-146-1086G>A
XM_011514779.3:c.-142-813G>A (BAK1) XP_011513081.1:n.-142-813G>A
NM_001188.4:c.-31-1086G>A (BAK1) MANE Select NP_001179.1:n.-31-1086G>A
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