Canonical Allele Identifier: CA516679989
Gene: AKAP4 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.49957204G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192553G>C , CM000685.2:g.50192553G>C GRCh38
NC_000023.10:g.49957204G>C , CM000685.1:g.49957204G>C GRCh37
NC_000023.9:g.49843944G>C NCBI36
NG_012552.1:g.13461C>G
NG_012552.2:g.13461C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.2160C>G MANE Select ENSP00000351327.2:p.Ala720=
ENST00000358526.6:c.2160C>G ENSP00000351327.2:p.Ala720=
ENST00000376064.7:c.2133C>G ENSP00000365232.3:p.Ala711=
ENST00000481402.5:n.2272C>G
NM_003886.2:c.2160C>G NP_003877.2:p.Ala720=
NM_139289.1:c.2133C>G NP_647450.1:p.Ala711=
NM_003886.3:c.2160C>G MANE Select NP_003877.2:p.Ala720=
NM_139289.2:c.2133C>G NP_647450.1:p.Ala711=