Canonical Allele Identifier: CA516679938
Gene: AKAP4 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.49957180T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192529T>G , CM000685.2:g.50192529T>G GRCh38
NC_000023.10:g.49957180T>G , CM000685.1:g.49957180T>G GRCh37
NC_000023.9:g.49843920T>G NCBI36
NG_012552.1:g.13485A>C
NG_012552.2:g.13485A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.2184A>C MANE Select ENSP00000351327.2:p.Ala728=
ENST00000358526.6:c.2184A>C ENSP00000351327.2:p.Ala728=
ENST00000376064.7:c.2157A>C ENSP00000365232.3:p.Ala719=
ENST00000481402.5:n.2296A>C
NM_003886.2:c.2184A>C NP_003877.2:p.Ala728=
NM_139289.1:c.2157A>C NP_647450.1:p.Ala719=
NM_003886.3:c.2184A>C MANE Select NP_003877.2:p.Ala728=
NM_139289.2:c.2157A>C NP_647450.1:p.Ala719=