Canonical Allele Identifier: CA12322162

Gene: BAK1 GGNBP1

Linked Data

• dbSNP Id: rs210142
• gnomAD v2: 6-33546837-T-C
• gnomAD v3: 6-33579060-T-C
• gnomAD v4: 6-33579060-T-C
• MyVariant Identifiers: chr6:g.33546837T>C (hg19) ; chr6:g.33579060T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33579060T>C , CM000668.2:g.33579060T>C	GRCh38
NC_000006.11:g.33546837T>C , CM000668.1:g.33546837T>C	GRCh37
NC_000006.10:g.33654815T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000374467.4:c.-32+965A>G (BAK1) MANE Select	ENSP00000363591.3:n.-32+965A>G
ENST00000360661.9:c.-32+965A>G (BAK1)	ENSP00000353878.6:n.-32+965A>G
ENST00000374467.3:c.-32+965A>G (BAK1)	ENSP00000363591.3:n.-32+965A>G
ENST00000442998.6:c.-32+965A>G (BAK1)	ENSP00000391258.2:n.-32+965A>G
ENST00000612409.1:n.362+3596T>C (GGNBP1)
NM_001188.3:c.-32+965A>G (BAK1)	NP_001179.1:n.-32+965A>G
XM_011514779.1:c.-143+965A>G (BAK1)	XP_011513081.1:n.-143+965A>G
XM_011514780.1:c.-147+965A>G (BAK1)	XP_011513082.1:n.-147+965A>G
XM_011514779.3:c.-143+965A>G (BAK1)	XP_011513081.1:n.-143+965A>G
NM_001188.4:c.-32+965A>G (BAK1) MANE Select	NP_001179.1:n.-32+965A>G