Canonical Allele Identifier: CA413189526
Gene: AKAP4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192897C>G , CM000685.2:g.50192897C>G GRCh38
NC_000023.10:g.49957548C>G , CM000685.1:g.49957548C>G GRCh37
NC_000023.9:g.49844288C>G NCBI36
NG_012552.1:g.13117G>C
NG_012552.2:g.13117G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.1816G>C MANE Select ENSP00000351327.2:p.Ala606Pro
ENST00000358526.6:c.1816G>C ENSP00000351327.2:p.Ala606Pro
ENST00000376064.7:c.1789G>C ENSP00000365232.3:p.Ala597Pro
ENST00000481402.5:n.1928G>C
NM_003886.2:c.1816G>C NP_003877.2:p.Ala606Pro
NM_139289.1:c.1789G>C NP_647450.1:p.Ala597Pro
NM_003886.3:c.1816G>C MANE Select NP_003877.2:p.Ala606Pro
NM_139289.2:c.1789G>C NP_647450.1:p.Ala597Pro