Canonical Allele Identifier: CA15425435
Gene: BAK1 HGNC NCBI
GGNBP1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.33572915T>A
GRCh37 chr6:g.33540692T>A
gnomAD v2:
6:33540692 T / A
gnomAD v3:
6:33572915 T / A
gnomAD v4:
chr6-33572915-T-A
Joint Max Group AF 0.83781421 (SAS)
Genomes Max Group AF 0.83781421 (SAS)
Exomes Max Group AF 0.00888354 (EAS)
dbSNP:
210135
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33572915T>A , CM000668.2:g.33572915T>A GRCh38
NC_000006.11:g.33540692T>A , CM000668.1:g.33540692T>A GRCh37
NC_000006.10:g.33648670T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000374467.4:c.*888A>T (BAK1) MANE Select ENSP00000363591.3:n.*888A>T
ENST00000360661.9:c.*888A>T (BAK1) ENSP00000353878.6:n.*888A>T
ENST00000374467.3:c.*888A>T (BAK1) ENSP00000363591.3:n.*888A>T
ENST00000442998.6:c.*1082A>T (BAK1) ENSP00000391258.2:n.*1082A>T
ENST00000612409.1:n.248+2104T>A (GGNBP1)
NM_001188.3:c.*888A>T (BAK1) NP_001179.1:n.*888A>T
XM_011514779.1:c.*888A>T (BAK1) XP_011513081.1:n.*888A>T
XM_011514780.1:c.*888A>T (BAK1) XP_011513082.1:n.*888A>T
XM_011514779.3:c.*888A>T (BAK1) XP_011513081.1:n.*888A>T
NM_001188.4:c.*888A>T (BAK1) MANE Select NP_001179.1:n.*888A>T
Search 100 bp 5'
Search 100 bp 3'