Canonical Allele Identifier: CA413187608
Gene: AKAP4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192443T>A , CM000685.2:g.50192443T>A GRCh38
NC_000023.10:g.49957094T>A , CM000685.1:g.49957094T>A GRCh37
NC_000023.9:g.49843834T>A NCBI36
NG_012552.1:g.13571A>T
NG_012552.2:g.13571A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.2270A>T MANE Select ENSP00000351327.2:p.His757Leu
ENST00000358526.6:c.2270A>T ENSP00000351327.2:p.His757Leu
ENST00000376064.7:c.2243A>T ENSP00000365232.3:p.His748Leu
ENST00000481402.5:n.2382A>T
NM_003886.2:c.2270A>T NP_003877.2:p.His757Leu
NM_139289.1:c.2243A>T NP_647450.1:p.His748Leu
NM_003886.3:c.2270A>T MANE Select NP_003877.2:p.His757Leu
NM_139289.2:c.2243A>T NP_647450.1:p.His748Leu