Canonical Allele Identifier: CA10414151
Gene: AKAP4 HGNC NCBI

Linked Data

dbSNP Id: rs782708684
ExAC: X:49957328 T / G
gnomAD v2: X-49957328-T-G
gnomAD v4: X-50192677-T-G
MyVariant Identifiers: chrX:g.49957328T>G (hg19) chrX:g.50192677T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192677T>G , CM000685.2:g.50192677T>G GRCh38
NC_000023.10:g.49957328T>G , CM000685.1:g.49957328T>G GRCh37
NC_000023.9:g.49844068T>G NCBI36
NG_012552.1:g.13337A>C
NG_012552.2:g.13337A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.2036A>C MANE Select ENSP00000351327.2:p.Glu679Ala
ENST00000358526.6:c.2036A>C ENSP00000351327.2:p.Glu679Ala
ENST00000376064.7:c.2009A>C ENSP00000365232.3:p.Glu670Ala
ENST00000481402.5:n.2148A>C
NM_003886.2:c.2036A>C NP_003877.2:p.Glu679Ala
NM_139289.1:c.2009A>C NP_647450.1:p.Glu670Ala
NM_003886.3:c.2036A>C MANE Select NP_003877.2:p.Glu679Ala
NM_139289.2:c.2009A>C NP_647450.1:p.Glu670Ala
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