Canonical Allele Identifier: CA2678285504

Gene: BAK1 GGNBP1

Linked Data

• gnomAD v4: 6-33575248-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33575248G>T , CM000668.2:g.33575248G>T	GRCh38
NC_000006.11:g.33543025G>T , CM000668.1:g.33543025G>T	GRCh37
NC_000006.10:g.33651003G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374467.4:c.350+50C>A (BAK1) MANE Select	ENSP00000363591.3:n.350+50C>A
ENST00000360661.9:c.290+50C>A (BAK1)	ENSP00000353878.6:n.290+50C>A
ENST00000374467.3:c.350+50C>A (BAK1)	ENSP00000363591.3:n.350+50C>A
ENST00000442998.6:c.350+50C>A (BAK1)	ENSP00000391258.2:n.350+50C>A
ENST00000612409.1:n.249-103G>T (GGNBP1)
NM_001188.3:c.350+50C>A (BAK1)	NP_001179.1:n.350+50C>A
XM_011514779.1:c.350+50C>A (BAK1)	XP_011513081.1:n.350+50C>A
XM_011514780.1:c.173+50C>A (BAK1)	XP_011513082.1:n.173+50C>A
XM_011514779.3:c.350+50C>A (BAK1)	XP_011513081.1:n.350+50C>A
NM_001188.4:c.350+50C>A (BAK1) MANE Select	NP_001179.1:n.350+50C>A