Canonical Allele Identifier: CA10414186
Gene: AKAP4 HGNC NCBI

Linked Data

dbSNP Id: rs782044480
ExAC: X:49957729 A / T
gnomAD v2: X-49957729-A-T
gnomAD v3: X-50193078-A-T
gnomAD v4: X-50193078-A-T
MyVariant Identifiers: chrX:g.49957729A>T (hg19) chrX:g.50193078A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50193078A>T , CM000685.2:g.50193078A>T GRCh38
NC_000023.10:g.49957729A>T , CM000685.1:g.49957729A>T GRCh37
NC_000023.9:g.49844469A>T NCBI36
NG_012552.1:g.12936T>A
NG_012552.2:g.12936T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.1635T>A MANE Select ENSP00000351327.2:p.Ile545=
ENST00000358526.6:c.1635T>A ENSP00000351327.2:p.Ile545=
ENST00000376064.7:c.1608T>A ENSP00000365232.3:p.Ile536=
ENST00000448865.5:c.542-56T>A ENSP00000402403.1:n.542-56T>A
ENST00000481402.5:n.1747T>A
NM_003886.2:c.1635T>A NP_003877.2:p.Ile545=
NM_139289.1:c.1608T>A NP_647450.1:p.Ile536=
NM_003886.3:c.1635T>A MANE Select NP_003877.2:p.Ile545=
NM_139289.2:c.1608T>A NP_647450.1:p.Ile536=
Search 100 bp 5'
Search 100 bp 3'