Canonical Allele Identifier: CA516679243
Gene: AKAP4 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.49957579T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192928T>C , CM000685.2:g.50192928T>C GRCh38
NC_000023.10:g.49957579T>C , CM000685.1:g.49957579T>C GRCh37
NC_000023.9:g.49844319T>C NCBI36
NG_012552.1:g.13086A>G
NG_012552.2:g.13086A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.1785A>G MANE Select ENSP00000351327.2:p.Ala595=
ENST00000358526.6:c.1785A>G ENSP00000351327.2:p.Ala595=
ENST00000376064.7:c.1758A>G ENSP00000365232.3:p.Ala586=
ENST00000448865.5:c.636A>G ENSP00000402403.1:p.Ala212=
ENST00000481402.5:n.1897A>G
NM_003886.2:c.1785A>G NP_003877.2:p.Ala595=
NM_139289.1:c.1758A>G NP_647450.1:p.Ala586=
NM_003886.3:c.1785A>G MANE Select NP_003877.2:p.Ala595=
NM_139289.2:c.1758A>G NP_647450.1:p.Ala586=