Canonical Allele Identifier: CA2678285511
Gene: BAK1 HGNC NCBI
GGNBP1 HGNC NCBI

Linked Data

gnomAD v4: 6-33575253-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33575253A>C , CM000668.2:g.33575253A>C GRCh38
NC_000006.11:g.33543030A>C , CM000668.1:g.33543030A>C GRCh37
NC_000006.10:g.33651008A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000374467.4:c.350+45T>G (BAK1) MANE Select ENSP00000363591.3:n.350+45T>G
ENST00000360661.9:c.290+45T>G (BAK1) ENSP00000353878.6:n.290+45T>G
ENST00000374467.3:c.350+45T>G (BAK1) ENSP00000363591.3:n.350+45T>G
ENST00000442998.6:c.350+45T>G (BAK1) ENSP00000391258.2:n.350+45T>G
ENST00000612409.1:n.249-98A>C (GGNBP1)
NM_001188.3:c.350+45T>G (BAK1) NP_001179.1:n.350+45T>G
XM_011514779.1:c.350+45T>G (BAK1) XP_011513081.1:n.350+45T>G
XM_011514780.1:c.173+45T>G (BAK1) XP_011513082.1:n.173+45T>G
XM_011514779.3:c.350+45T>G (BAK1) XP_011513081.1:n.350+45T>G
NM_001188.4:c.350+45T>G (BAK1) MANE Select NP_001179.1:n.350+45T>G
Search 100 bp 5'
Search 100 bp 3'