Canonical Allele Identifier: CA516679851
Gene: AKAP4 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.49957735G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50193084G>A , CM000685.2:g.50193084G>A GRCh38
NC_000023.10:g.49957735G>A , CM000685.1:g.49957735G>A GRCh37
NC_000023.9:g.49844475G>A NCBI36
NG_012552.1:g.12930C>T
NG_012552.2:g.12930C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.1629C>T MANE Select ENSP00000351327.2:p.Asp543=
ENST00000358526.6:c.1629C>T ENSP00000351327.2:p.Asp543=
ENST00000376064.7:c.1602C>T ENSP00000365232.3:p.Asp534=
ENST00000448865.5:c.542-62C>T ENSP00000402403.1:n.542-62C>T
ENST00000481402.5:n.1741C>T
NM_003886.2:c.1629C>T NP_003877.2:p.Asp543=
NM_139289.1:c.1602C>T NP_647450.1:p.Asp534=
NM_003886.3:c.1629C>T MANE Select NP_003877.2:p.Asp543=
NM_139289.2:c.1602C>T NP_647450.1:p.Asp534=