Canonical Allele Identifier: CA516678921
Gene: AKAP4 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.49957246C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192595C>T , CM000685.2:g.50192595C>T GRCh38
NC_000023.10:g.49957246C>T , CM000685.1:g.49957246C>T GRCh37
NC_000023.9:g.49843986C>T NCBI36
NG_012552.1:g.13419G>A
NG_012552.2:g.13419G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000358526.7:c.2118G>A MANE Select ENSP00000351327.2:p.Lys706=
ENST00000358526.6:c.2118G>A ENSP00000351327.2:p.Lys706=
ENST00000376064.7:c.2091G>A ENSP00000365232.3:p.Lys697=
ENST00000481402.5:n.2230G>A
NM_003886.2:c.2118G>A NP_003877.2:p.Lys706=
NM_139289.1:c.2091G>A NP_647450.1:p.Lys697=
NM_003886.3:c.2118G>A MANE Select NP_003877.2:p.Lys706=
NM_139289.2:c.2091G>A NP_647450.1:p.Lys697=