Canonical Allele Identifier: CA413187837
Gene: AKAP4 HGNC NCBI

Linked Data

gnomAD v4: X-50192518-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192518T>G , CM000685.2:g.50192518T>G GRCh38
NC_000023.10:g.49957169T>G , CM000685.1:g.49957169T>G GRCh37
NC_000023.9:g.49843909T>G NCBI36
NG_012552.1:g.13496A>C
NG_012552.2:g.13496A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.2195A>C MANE Select ENSP00000351327.2:p.Asn732Thr
ENST00000358526.6:c.2195A>C ENSP00000351327.2:p.Asn732Thr
ENST00000376064.7:c.2168A>C ENSP00000365232.3:p.Asn723Thr
ENST00000481402.5:n.2307A>C
NM_003886.2:c.2195A>C NP_003877.2:p.Asn732Thr
NM_139289.1:c.2168A>C NP_647450.1:p.Asn723Thr
NM_003886.3:c.2195A>C MANE Select NP_003877.2:p.Asn732Thr
NM_139289.2:c.2168A>C NP_647450.1:p.Asn723Thr