Canonical Allele Identifier: CA413190134
Gene: AKAP4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50193036C>A , CM000685.2:g.50193036C>A GRCh38
NC_000023.10:g.49957687C>A , CM000685.1:g.49957687C>A GRCh37
NC_000023.9:g.49844427C>A NCBI36
NG_012552.1:g.12978G>T
NG_012552.2:g.12978G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.1677G>T MANE Select ENSP00000351327.2:p.Gln559His
ENST00000358526.6:c.1677G>T ENSP00000351327.2:p.Gln559His
ENST00000376064.7:c.1650G>T ENSP00000365232.3:p.Gln550His
ENST00000448865.5:c.542-14G>T ENSP00000402403.1:n.542-14G>T
ENST00000481402.5:n.1789G>T
NM_003886.2:c.1677G>T NP_003877.2:p.Gln559His
NM_139289.1:c.1650G>T NP_647450.1:p.Gln550His
NM_003886.3:c.1677G>T MANE Select NP_003877.2:p.Gln559His
NM_139289.2:c.1650G>T NP_647450.1:p.Gln550His