Canonical Allele Identifier: CA413188494
Gene: AKAP4 HGNC NCBI

Linked Data

gnomAD v4: X-50192663-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192663C>A , CM000685.2:g.50192663C>A GRCh38
NC_000023.10:g.49957314C>A , CM000685.1:g.49957314C>A GRCh37
NC_000023.9:g.49844054C>A NCBI36
NG_012552.1:g.13351G>T
NG_012552.2:g.13351G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.2050G>T MANE Select ENSP00000351327.2:p.Asp684Tyr
ENST00000358526.6:c.2050G>T ENSP00000351327.2:p.Asp684Tyr
ENST00000376064.7:c.2023G>T ENSP00000365232.3:p.Asp675Tyr
ENST00000481402.5:n.2162G>T
NM_003886.2:c.2050G>T NP_003877.2:p.Asp684Tyr
NM_139289.1:c.2023G>T NP_647450.1:p.Asp675Tyr
NM_003886.3:c.2050G>T MANE Select NP_003877.2:p.Asp684Tyr
NM_139289.2:c.2023G>T NP_647450.1:p.Asp675Tyr