Canonical Allele Identifier: CA10414184
Gene: AKAP4 HGNC NCBI

Linked Data

dbSNP Id: rs139049075
ExAC: X:49957706 T / C
gnomAD v2: X-49957706-T-C
gnomAD v3: X-50193055-T-C
gnomAD v4: X-50193055-T-C
MyVariant Identifiers: chrX:g.49957706T>C (hg19) chrX:g.50193055T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50193055T>C , CM000685.2:g.50193055T>C GRCh38
NC_000023.10:g.49957706T>C , CM000685.1:g.49957706T>C GRCh37
NC_000023.9:g.49844446T>C NCBI36
NG_012552.1:g.12959A>G
NG_012552.2:g.12959A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.1658A>G MANE Select ENSP00000351327.2:p.Gln553Arg
ENST00000358526.6:c.1658A>G ENSP00000351327.2:p.Gln553Arg
ENST00000376064.7:c.1631A>G ENSP00000365232.3:p.Gln544Arg
ENST00000448865.5:c.542-33A>G ENSP00000402403.1:n.542-33A>G
ENST00000481402.5:n.1770A>G
NM_003886.2:c.1658A>G NP_003877.2:p.Gln553Arg
NM_139289.1:c.1631A>G NP_647450.1:p.Gln544Arg
NM_003886.3:c.1658A>G MANE Select NP_003877.2:p.Gln553Arg
NM_139289.2:c.1631A>G NP_647450.1:p.Gln544Arg
Search 100 bp 5'
Search 100 bp 3'