Canonical Allele Identifier: CA3759525

Gene: BAK1 GGNBP1

Linked Data

• dbSNP Id: rs373778311
• ExAC: 6:33543117 G / A
• gnomAD v2: 6-33543117-G-A
• gnomAD v3: 6-33575340-G-A
• gnomAD v4: 6-33575340-G-A
• MyVariant Identifiers: chr6:g.33543117G>A (hg19) ; chr6:g.33575340G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33575340G>A , CM000668.2:g.33575340G>A	GRCh38
NC_000006.11:g.33543117G>A , CM000668.1:g.33543117G>A	GRCh37
NC_000006.10:g.33651095G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000374467.4:c.308C>T (BAK1) MANE Select	ENSP00000363591.3:p.Thr103Met
ENST00000360661.9:c.248C>T (BAK1)	ENSP00000353878.6:p.Thr83Met
ENST00000374467.3:c.308C>T (BAK1)	ENSP00000363591.3:p.Thr103Met
ENST00000442998.6:c.308C>T (BAK1)	ENSP00000391258.2:p.Thr103Met
ENST00000612409.1:n.249-11G>A (GGNBP1)
NM_001188.3:c.308C>T (BAK1)	NP_001179.1:p.Thr103Met
XM_011514779.1:c.308C>T (BAK1)	XP_011513081.1:p.Thr103Met
XM_011514780.1:c.131C>T (BAK1)	XP_011513082.1:p.Thr44Met
XM_011514779.3:c.308C>T (BAK1)	XP_011513081.1:p.Thr103Met
NM_001188.4:c.308C>T (BAK1) MANE Select	NP_001179.1:p.Thr103Met