Canonical Allele Identifier: CA413189858
Gene: AKAP4 HGNC NCBI

Linked Data

dbSNP Id: rs1227929014
gnomAD v2: X-49957623-T-A
gnomAD v3: X-50192972-T-A
gnomAD v4: X-50192972-T-A
COSMIC: COSM5769191
MyVariant Identifiers: chrX:g.49957623T>A (hg19) chrX:g.50192972T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192972T>A , CM000685.2:g.50192972T>A GRCh38
NC_000023.10:g.49957623T>A , CM000685.1:g.49957623T>A GRCh37
NC_000023.9:g.49844363T>A NCBI36
NG_012552.1:g.13042A>T
NG_012552.2:g.13042A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.1741A>T MANE Select ENSP00000351327.2:p.Ser581Cys
ENST00000358526.6:c.1741A>T ENSP00000351327.2:p.Ser581Cys
ENST00000376064.7:c.1714A>T ENSP00000365232.3:p.Ser572Cys
ENST00000448865.5:c.592A>T ENSP00000402403.1:p.Ser198Cys
ENST00000481402.5:n.1853A>T
NM_003886.2:c.1741A>T NP_003877.2:p.Ser581Cys
NM_139289.1:c.1714A>T NP_647450.1:p.Ser572Cys
NM_003886.3:c.1741A>T MANE Select NP_003877.2:p.Ser581Cys
NM_139289.2:c.1714A>T NP_647450.1:p.Ser572Cys
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