Canonical Allele Identifier: CA516679588
Gene: AKAP4 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.49957663T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50193012T>C , CM000685.2:g.50193012T>C GRCh38
NC_000023.10:g.49957663T>C , CM000685.1:g.49957663T>C GRCh37
NC_000023.9:g.49844403T>C NCBI36
NG_012552.1:g.13002A>G
NG_012552.2:g.13002A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.1701A>G MANE Select ENSP00000351327.2:p.Glu567=
ENST00000358526.6:c.1701A>G ENSP00000351327.2:p.Glu567=
ENST00000376064.7:c.1674A>G ENSP00000365232.3:p.Glu558=
ENST00000448865.5:c.552A>G ENSP00000402403.1:p.Glu184=
ENST00000481402.5:n.1813A>G
NM_003886.2:c.1701A>G NP_003877.2:p.Glu567=
NM_139289.1:c.1674A>G NP_647450.1:p.Glu558=
NM_003886.3:c.1701A>G MANE Select NP_003877.2:p.Glu567=
NM_139289.2:c.1674A>G NP_647450.1:p.Glu558=