Canonical Allele Identifier: CA363652556

Gene: BAK1 GGNBP1

Linked Data

• gnomAD v4: 6-33575340-G-T
• MyVariant Identifiers: chr6:g.33543117G>T (hg19) ; chr6:g.33575340G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374467.4:c.308C>A (BAK1) MANE Select	ENSP00000363591.3:p.Thr103Lys
ENST00000360661.9:c.248C>A (BAK1)	ENSP00000353878.6:p.Thr83Lys
ENST00000374467.3:c.308C>A (BAK1)	ENSP00000363591.3:p.Thr103Lys
ENST00000442998.6:c.308C>A (BAK1)	ENSP00000391258.2:p.Thr103Lys
ENST00000612409.1:n.249-11G>T (GGNBP1)
NM_001188.3:c.308C>A (BAK1)	NP_001179.1:p.Thr103Lys
XM_011514779.1:c.308C>A (BAK1)	XP_011513081.1:p.Thr103Lys
XM_011514780.1:c.131C>A (BAK1)	XP_011513082.1:p.Thr44Lys
XM_011514779.3:c.308C>A (BAK1)	XP_011513081.1:p.Thr103Lys
NM_001188.4:c.308C>A (BAK1) MANE Select	NP_001179.1:p.Thr103Lys