Canonical Allele Identifier: CA10414188
Gene: AKAP4 HGNC NCBI

Linked Data

dbSNP Id: rs190004634
ExAC: X:49957752 C / G
gnomAD v2: X-49957752-C-G
gnomAD v3: X-50193101-C-G
gnomAD v4: X-50193101-C-G
MyVariant Identifiers: chrX:g.49957752C>G (hg19) chrX:g.50193101C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50193101C>G , CM000685.2:g.50193101C>G GRCh38
NC_000023.10:g.49957752C>G , CM000685.1:g.49957752C>G GRCh37
NC_000023.9:g.49844492C>G NCBI36
NG_012552.1:g.12913G>C
NG_012552.2:g.12913G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.1612G>C MANE Select ENSP00000351327.2:p.Asp538His
ENST00000358526.6:c.1612G>C ENSP00000351327.2:p.Asp538His
ENST00000376064.7:c.1585G>C ENSP00000365232.3:p.Asp529His
ENST00000448865.5:c.542-79G>C ENSP00000402403.1:n.542-79G>C
ENST00000481402.5:n.1724G>C
NM_003886.2:c.1612G>C NP_003877.2:p.Asp538His
NM_139289.1:c.1585G>C NP_647450.1:p.Asp529His
NM_003886.3:c.1612G>C MANE Select NP_003877.2:p.Asp538His
NM_139289.2:c.1585G>C NP_647450.1:p.Asp529His
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