Canonical Allele Identifier: CA516679013
Gene: AKAP4 HGNC NCBI

Linked Data

gnomAD v4: X-50192640-T-C
MyVariant Identifiers: chrX:g.49957291T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192640T>C , CM000685.2:g.50192640T>C GRCh38
NC_000023.10:g.49957291T>C , CM000685.1:g.49957291T>C GRCh37
NC_000023.9:g.49844031T>C NCBI36
NG_012552.1:g.13374A>G
NG_012552.2:g.13374A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.2073A>G MANE Select ENSP00000351327.2:p.Gln691=
ENST00000358526.6:c.2073A>G ENSP00000351327.2:p.Gln691=
ENST00000376064.7:c.2046A>G ENSP00000365232.3:p.Gln682=
ENST00000481402.5:n.2185A>G
NM_003886.2:c.2073A>G NP_003877.2:p.Gln691=
NM_139289.1:c.2046A>G NP_647450.1:p.Gln682=
NM_003886.3:c.2073A>G MANE Select NP_003877.2:p.Gln691=
NM_139289.2:c.2046A>G NP_647450.1:p.Gln682=