Canonical Allele Identifier: CA329787860

Gene: AKAP4

Linked Data

• dbSNP Id: rs201649248
• MyVariant Identifiers: chrX:g.49957689G>C (hg19) ; chrX:g.50193038G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50193038G>C , CM000685.2:g.50193038G>C	GRCh38
NC_000023.10:g.49957689G>C , CM000685.1:g.49957689G>C	GRCh37
NC_000023.9:g.49844429G>C	NCBI36
NG_012552.1:g.12976C>G
NG_012552.2:g.12976C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358526.7:c.1675C>G MANE Select	ENSP00000351327.2:p.Gln559Glu
ENST00000358526.6:c.1675C>G	ENSP00000351327.2:p.Gln559Glu
ENST00000376064.7:c.1648C>G	ENSP00000365232.3:p.Gln550Glu
ENST00000448865.5:c.542-16C>G	ENSP00000402403.1:n.542-16C>G
ENST00000481402.5:n.1787C>G
NM_003886.2:c.1675C>G	NP_003877.2:p.Gln559Glu
NM_139289.1:c.1648C>G	NP_647450.1:p.Gln550Glu
NM_003886.3:c.1675C>G MANE Select	NP_003877.2:p.Gln559Glu
NM_139289.2:c.1648C>G	NP_647450.1:p.Gln550Glu