Canonical Allele Identifier: CA413188129
Gene: AKAP4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192585T>G , CM000685.2:g.50192585T>G GRCh38
NC_000023.10:g.49957236T>G , CM000685.1:g.49957236T>G GRCh37
NC_000023.9:g.49843976T>G NCBI36
NG_012552.1:g.13429A>C
NG_012552.2:g.13429A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.2128A>C MANE Select ENSP00000351327.2:p.Ile710Leu
ENST00000358526.6:c.2128A>C ENSP00000351327.2:p.Ile710Leu
ENST00000376064.7:c.2101A>C ENSP00000365232.3:p.Ile701Leu
ENST00000481402.5:n.2240A>C
NM_003886.2:c.2128A>C NP_003877.2:p.Ile710Leu
NM_139289.1:c.2101A>C NP_647450.1:p.Ile701Leu
NM_003886.3:c.2128A>C MANE Select NP_003877.2:p.Ile710Leu
NM_139289.2:c.2101A>C NP_647450.1:p.Ile701Leu