Canonical Allele Identifier: CA413187515
Gene: AKAP4 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.49957055A>C (hg19) chrX:g.50192404A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192404A>C , CM000685.2:g.50192404A>C GRCh38
NC_000023.10:g.49957055A>C , CM000685.1:g.49957055A>C GRCh37
NC_000023.9:g.49843795A>C NCBI36
NG_012552.1:g.13610T>G
NG_012552.2:g.13610T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.2309T>G MANE Select ENSP00000351327.2:p.Leu770Trp
ENST00000358526.6:c.2309T>G ENSP00000351327.2:p.Leu770Trp
ENST00000376064.7:c.2282T>G ENSP00000365232.3:p.Leu761Trp
ENST00000481402.5:n.2421T>G
NM_003886.2:c.2309T>G NP_003877.2:p.Leu770Trp
NM_139289.1:c.2282T>G NP_647450.1:p.Leu761Trp
NM_003886.3:c.2309T>G MANE Select NP_003877.2:p.Leu770Trp
NM_139289.2:c.2282T>G NP_647450.1:p.Leu761Trp
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