Canonical Allele Identifier: CA413188180

Gene: AKAP4

Linked Data

• dbSNP Id: rs2146961452
• MyVariant Identifiers: chrX:g.49957248T>C (hg19) ; chrX:g.50192597T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50192597T>C , CM000685.2:g.50192597T>C	GRCh38
NC_000023.10:g.49957248T>C , CM000685.1:g.49957248T>C	GRCh37
NC_000023.9:g.49843988T>C	NCBI36
NG_012552.1:g.13417A>G
NG_012552.2:g.13417A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000358526.7:c.2116A>G MANE Select	ENSP00000351327.2:p.Lys706Glu
ENST00000358526.6:c.2116A>G	ENSP00000351327.2:p.Lys706Glu
ENST00000376064.7:c.2089A>G	ENSP00000365232.3:p.Lys697Glu
ENST00000481402.5:n.2228A>G
NM_003886.2:c.2116A>G	NP_003877.2:p.Lys706Glu
NM_139289.1:c.2089A>G	NP_647450.1:p.Lys697Glu
NM_003886.3:c.2116A>G MANE Select	NP_003877.2:p.Lys706Glu
NM_139289.2:c.2089A>G	NP_647450.1:p.Lys697Glu