Canonical Allele Identifier: CA516679582
Gene: AKAP4 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.49957081G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192430G>T , CM000685.2:g.50192430G>T GRCh38
NC_000023.10:g.49957081G>T , CM000685.1:g.49957081G>T GRCh37
NC_000023.9:g.49843821G>T NCBI36
NG_012552.1:g.13584C>A
NG_012552.2:g.13584C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.2283C>A MANE Select ENSP00000351327.2:p.Val761=
ENST00000358526.6:c.2283C>A ENSP00000351327.2:p.Val761=
ENST00000376064.7:c.2256C>A ENSP00000365232.3:p.Val752=
ENST00000481402.5:n.2395C>A
NM_003886.2:c.2283C>A NP_003877.2:p.Val761=
NM_139289.1:c.2256C>A NP_647450.1:p.Val752=
NM_003886.3:c.2283C>A MANE Select NP_003877.2:p.Val761=
NM_139289.2:c.2256C>A NP_647450.1:p.Val752=