Canonical Allele Identifier: CA413187581
Gene: AKAP4 HGNC NCBI

Linked Data

gnomAD v4: X-50192431-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192431A>T , CM000685.2:g.50192431A>T GRCh38
NC_000023.10:g.49957082A>T , CM000685.1:g.49957082A>T GRCh37
NC_000023.9:g.49843822A>T NCBI36
NG_012552.1:g.13583T>A
NG_012552.2:g.13583T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.2282T>A MANE Select ENSP00000351327.2:p.Val761Asp
ENST00000358526.6:c.2282T>A ENSP00000351327.2:p.Val761Asp
ENST00000376064.7:c.2255T>A ENSP00000365232.3:p.Val752Asp
ENST00000481402.5:n.2394T>A
NM_003886.2:c.2282T>A NP_003877.2:p.Val761Asp
NM_139289.1:c.2255T>A NP_647450.1:p.Val752Asp
NM_003886.3:c.2282T>A MANE Select NP_003877.2:p.Val761Asp
NM_139289.2:c.2255T>A NP_647450.1:p.Val752Asp