Canonical Allele Identifier: CA516678995
Gene: AKAP4 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.49957509G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192858G>A , CM000685.2:g.50192858G>A GRCh38
NC_000023.10:g.49957509G>A , CM000685.1:g.49957509G>A GRCh37
NC_000023.9:g.49844249G>A NCBI36
NG_012552.1:g.13156C>T
NG_012552.2:g.13156C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.1855C>T MANE Select ENSP00000351327.2:p.Leu619=
ENST00000358526.6:c.1855C>T ENSP00000351327.2:p.Leu619=
ENST00000376064.7:c.1828C>T ENSP00000365232.3:p.Leu610=
ENST00000481402.5:n.1967C>T
NM_003886.2:c.1855C>T NP_003877.2:p.Leu619=
NM_139289.1:c.1828C>T NP_647450.1:p.Leu610=
NM_003886.3:c.1855C>T MANE Select NP_003877.2:p.Leu619=
NM_139289.2:c.1828C>T NP_647450.1:p.Leu610=