Canonical Allele Identifier: CA516679185
Gene: AKAP4 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.49957561T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192910T>A , CM000685.2:g.50192910T>A GRCh38
NC_000023.10:g.49957561T>A , CM000685.1:g.49957561T>A GRCh37
NC_000023.9:g.49844301T>A NCBI36
NG_012552.1:g.13104A>T
NG_012552.2:g.13104A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.1803A>T MANE Select ENSP00000351327.2:p.Leu601=
ENST00000358526.6:c.1803A>T ENSP00000351327.2:p.Leu601=
ENST00000376064.7:c.1776A>T ENSP00000365232.3:p.Leu592=
ENST00000481402.5:n.1915A>T
NM_003886.2:c.1803A>T NP_003877.2:p.Leu601=
NM_139289.1:c.1776A>T NP_647450.1:p.Leu592=
NM_003886.3:c.1803A>T MANE Select NP_003877.2:p.Leu601=
NM_139289.2:c.1776A>T NP_647450.1:p.Leu592=