Canonical Allele Identifier: CA363652652

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33575351G>C , CM000668.2:g.33575351G>C GRCh38
NC_000006.11:g.33543128G>C , CM000668.1:g.33543128G>C GRCh37
NC_000006.10:g.33651106G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000374467.4:c.297C>G (BAK1) MANE Select ENSP00000363591.3:p.His99Gln
ENST00000360661.9:c.237C>G (BAK1) ENSP00000353878.6:p.His79Gln
ENST00000374467.3:c.297C>G (BAK1) ENSP00000363591.3:p.His99Gln
ENST00000442998.6:c.297C>G (BAK1) ENSP00000391258.2:p.His99Gln
ENST00000612409.1:n.249G>C (GGNBP1)
NM_001188.3:c.297C>G (BAK1) NP_001179.1:p.His99Gln
XM_011514779.1:c.297C>G (BAK1) XP_011513081.1:p.His99Gln
XM_011514780.1:c.120C>G (BAK1) XP_011513082.1:p.His40Gln
XM_011514779.3:c.297C>G (BAK1) XP_011513081.1:p.His99Gln
NM_001188.4:c.297C>G (BAK1) MANE Select NP_001179.1:p.His99Gln