Canonical Allele Identifier: CA1620073097

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33574761A= , CM000668.2:g.33574761A= GRCh38
NC_000006.11:g.33542538A= , CM000668.1:g.33542538A= GRCh37
NC_000006.10:g.33650516A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001188.4:c.350+537T= (BAK1) MANE Select NP_001179.1:n.350+537T=
ENST00000374467.4:c.350+537T= (BAK1) MANE Select ENSP00000363591.3:n.350+537T=
NM_001188.3:c.350+537T= (BAK1) NP_001179.1:n.350+537T=
ENST00000360661.9:c.290+537T= (BAK1) ENSP00000353878.6:n.290+537T=
ENST00000374467.3:c.350+537T= (BAK1) ENSP00000363591.3:n.350+537T=
ENST00000442998.6:c.351-236T= (BAK1) ENSP00000391258.2:n.351-236T=
ENST00000612409.1:n.249-590A= (GGNBP1)
XM_011514779.1:c.350+537T= (BAK1) XP_011513081.1:n.350+537T=
XM_011514779.3:c.350+537T= (BAK1) XP_011513081.1:n.350+537T=
XM_011514780.1:c.173+537T= (BAK1) XP_011513082.1:n.173+537T=