Canonical Allele Identifier: CA413190292
Gene: AKAP4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50193073G>C , CM000685.2:g.50193073G>C GRCh38
NC_000023.10:g.49957724G>C , CM000685.1:g.49957724G>C GRCh37
NC_000023.9:g.49844464G>C NCBI36
NG_012552.1:g.12941C>G
NG_012552.2:g.12941C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.1640C>G MANE Select ENSP00000351327.2:p.Ser547Cys
ENST00000358526.6:c.1640C>G ENSP00000351327.2:p.Ser547Cys
ENST00000376064.7:c.1613C>G ENSP00000365232.3:p.Ser538Cys
ENST00000448865.5:c.542-51C>G ENSP00000402403.1:n.542-51C>G
ENST00000481402.5:n.1752C>G
NM_003886.2:c.1640C>G NP_003877.2:p.Ser547Cys
NM_139289.1:c.1613C>G NP_647450.1:p.Ser538Cys
NM_003886.3:c.1640C>G MANE Select NP_003877.2:p.Ser547Cys
NM_139289.2:c.1613C>G NP_647450.1:p.Ser538Cys