Canonical Allele Identifier: CA413190386
Gene: AKAP4 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.49957746G>C (hg19) chrX:g.50193095G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50193095G>C , CM000685.2:g.50193095G>C GRCh38
NC_000023.10:g.49957746G>C , CM000685.1:g.49957746G>C GRCh37
NC_000023.9:g.49844486G>C NCBI36
NG_012552.1:g.12919C>G
NG_012552.2:g.12919C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.1618C>G MANE Select ENSP00000351327.2:p.Leu540Val
ENST00000358526.6:c.1618C>G ENSP00000351327.2:p.Leu540Val
ENST00000376064.7:c.1591C>G ENSP00000365232.3:p.Leu531Val
ENST00000448865.5:c.542-73C>G ENSP00000402403.1:n.542-73C>G
ENST00000481402.5:n.1730C>G
NM_003886.2:c.1618C>G NP_003877.2:p.Leu540Val
NM_139289.1:c.1591C>G NP_647450.1:p.Leu531Val
NM_003886.3:c.1618C>G MANE Select NP_003877.2:p.Leu540Val
NM_139289.2:c.1591C>G NP_647450.1:p.Leu531Val
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