Canonical Allele Identifier: CA258683653

Gene: AKAP6

Linked Data

• dbSNP Id: rs1044407783
• gnomAD v2: 14-33303011-C-T
• gnomAD v3: 14-32833805-C-T
• gnomAD v4: 14-32833805-C-T
• MyVariant Identifiers: chr14:g.33303011C>T (hg19) ; chr14:g.32833805C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.32833805C>T , CM000676.2:g.32833805C>T	GRCh38
NC_000014.8:g.33303011C>T , CM000676.1:g.33303011C>T	GRCh37
NC_000014.7:g.32372762C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280979.9:c.*4000C>T MANE Select	ENSP00000280979.4:n.*4000C>T
ENST00000280979.8:c.*4000C>T	ENSP00000280979.4:n.*4000C>T
XM_005268219.3:c.*4000C>T	XP_005268276.1:n.*4000C>T
XM_011537378.1:c.*4000C>T	XP_011535680.1:n.*4000C>T
XM_011537379.1:c.*4000C>T	XP_011535681.1:n.*4000C>T
XM_011537380.1:c.*4000C>T	XP_011535682.1:n.*4000C>T
XM_011537381.1:c.*4000C>T	XP_011535683.1:n.*4000C>T
XM_011537382.1:c.*4000C>T	XP_011535684.1:n.*4000C>T
XM_011537383.1:c.*4000C>T	XP_011535685.1:n.*4000C>T
XM_017021808.2:c.*4000C>T	XP_016877297.1:n.*4000C>T
NM_004274.5:c.*4000C>T MANE Select	NP_004265.3:n.*4000C>T