Canonical Allele Identifier: CA516679935
Gene: AKAP4 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.49957177G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192526G>T , CM000685.2:g.50192526G>T GRCh38
NC_000023.10:g.49957177G>T , CM000685.1:g.49957177G>T GRCh37
NC_000023.9:g.49843917G>T NCBI36
NG_012552.1:g.13488C>A
NG_012552.2:g.13488C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.2187C>A MANE Select ENSP00000351327.2:p.Ala729=
ENST00000358526.6:c.2187C>A ENSP00000351327.2:p.Ala729=
ENST00000376064.7:c.2160C>A ENSP00000365232.3:p.Ala720=
ENST00000481402.5:n.2299C>A
NM_003886.2:c.2187C>A NP_003877.2:p.Ala729=
NM_139289.1:c.2160C>A NP_647450.1:p.Ala720=
NM_003886.3:c.2187C>A MANE Select NP_003877.2:p.Ala729=
NM_139289.2:c.2160C>A NP_647450.1:p.Ala720=