Canonical Allele Identifier: CA413190057

Gene: AKAP4

Linked Data

• gnomAD v4: X-50193020-T-C
• COSMIC: COSM5570140
• MyVariant Identifiers: chrX:g.49957671T>C (hg19) ; chrX:g.50193020T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50193020T>C , CM000685.2:g.50193020T>C	GRCh38
NC_000023.10:g.49957671T>C , CM000685.1:g.49957671T>C	GRCh37
NC_000023.9:g.49844411T>C	NCBI36
NG_012552.1:g.12994A>G
NG_012552.2:g.12994A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358526.7:c.1693A>G MANE Select	ENSP00000351327.2:p.Thr565Ala
ENST00000358526.6:c.1693A>G	ENSP00000351327.2:p.Thr565Ala
ENST00000376064.7:c.1666A>G	ENSP00000365232.3:p.Thr556Ala
ENST00000448865.5:c.544A>G	ENSP00000402403.1:p.Thr182Ala
ENST00000481402.5:n.1805A>G
NM_003886.2:c.1693A>G	NP_003877.2:p.Thr565Ala
NM_139289.1:c.1666A>G	NP_647450.1:p.Thr556Ala
NM_003886.3:c.1693A>G MANE Select	NP_003877.2:p.Thr565Ala
NM_139289.2:c.1666A>G	NP_647450.1:p.Thr556Ala