Canonical Allele Identifier: CA10414124
Gene: AKAP4 HGNC NCBI

Linked Data

dbSNP Id: rs782132083
ExAC: X:49957060 A / G
gnomAD v2: X-49957060-A-G
gnomAD v4: X-50192409-A-G
MyVariant Identifiers: chrX:g.49957060A>G (hg19) chrX:g.50192409A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192409A>G , CM000685.2:g.50192409A>G GRCh38
NC_000023.10:g.49957060A>G , CM000685.1:g.49957060A>G GRCh37
NC_000023.9:g.49843800A>G NCBI36
NG_012552.1:g.13605T>C
NG_012552.2:g.13605T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.2304T>C MANE Select ENSP00000351327.2:p.Asn768=
ENST00000358526.6:c.2304T>C ENSP00000351327.2:p.Asn768=
ENST00000376064.7:c.2277T>C ENSP00000365232.3:p.Asn759=
ENST00000481402.5:n.2416T>C
NM_003886.2:c.2304T>C NP_003877.2:p.Asn768=
NM_139289.1:c.2277T>C NP_647450.1:p.Asn759=
NM_003886.3:c.2304T>C MANE Select NP_003877.2:p.Asn768=
NM_139289.2:c.2277T>C NP_647450.1:p.Asn759=
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