Canonical Allele Identifier: CA413189506

Gene: AKAP4

Linked Data

• MyVariant Identifiers: chrX:g.49957544G>C (hg19) ; chrX:g.50192893G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50192893G>C , CM000685.2:g.50192893G>C	GRCh38
NC_000023.10:g.49957544G>C , CM000685.1:g.49957544G>C	GRCh37
NC_000023.9:g.49844284G>C	NCBI36
NG_012552.1:g.13121C>G
NG_012552.2:g.13121C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358526.7:c.1820C>G MANE Select	ENSP00000351327.2:p.Pro607Arg
ENST00000358526.6:c.1820C>G	ENSP00000351327.2:p.Pro607Arg
ENST00000376064.7:c.1793C>G	ENSP00000365232.3:p.Pro598Arg
ENST00000481402.5:n.1932C>G
NM_003886.2:c.1820C>G	NP_003877.2:p.Pro607Arg
NM_139289.1:c.1793C>G	NP_647450.1:p.Pro598Arg
NM_003886.3:c.1820C>G MANE Select	NP_003877.2:p.Pro607Arg
NM_139289.2:c.1793C>G	NP_647450.1:p.Pro598Arg