Canonical Allele Identifier: CA516679879
Gene: AKAP4 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.49957747T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50193096T>G , CM000685.2:g.50193096T>G GRCh38
NC_000023.10:g.49957747T>G , CM000685.1:g.49957747T>G GRCh37
NC_000023.9:g.49844487T>G NCBI36
NG_012552.1:g.12918A>C
NG_012552.2:g.12918A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.1617A>C MANE Select ENSP00000351327.2:p.Ser539=
ENST00000358526.6:c.1617A>C ENSP00000351327.2:p.Ser539=
ENST00000376064.7:c.1590A>C ENSP00000365232.3:p.Ser530=
ENST00000448865.5:c.542-74A>C ENSP00000402403.1:n.542-74A>C
ENST00000481402.5:n.1729A>C
NM_003886.2:c.1617A>C NP_003877.2:p.Ser539=
NM_139289.1:c.1590A>C NP_647450.1:p.Ser530=
NM_003886.3:c.1617A>C MANE Select NP_003877.2:p.Ser539=
NM_139289.2:c.1590A>C NP_647450.1:p.Ser530=