Canonical Allele Identifier: CA413190391
Gene: AKAP4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50193097G>T , CM000685.2:g.50193097G>T GRCh38
NC_000023.10:g.49957748G>T , CM000685.1:g.49957748G>T GRCh37
NC_000023.9:g.49844488G>T NCBI36
NG_012552.1:g.12917C>A
NG_012552.2:g.12917C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.1616C>A MANE Select ENSP00000351327.2:p.Ser539Ter
ENST00000358526.6:c.1616C>A ENSP00000351327.2:p.Ser539Ter
ENST00000376064.7:c.1589C>A ENSP00000365232.3:p.Ser530Ter
ENST00000448865.5:c.542-75C>A ENSP00000402403.1:n.542-75C>A
ENST00000481402.5:n.1728C>A
NM_003886.2:c.1616C>A NP_003877.2:p.Ser539Ter
NM_139289.1:c.1589C>A NP_647450.1:p.Ser530Ter
NM_003886.3:c.1616C>A MANE Select NP_003877.2:p.Ser539Ter
NM_139289.2:c.1589C>A NP_647450.1:p.Ser530Ter