Canonical Allele Identifier: CA413189684

Gene: AKAP4

Linked Data

• gnomAD v4: X-50192933-T-G
• MyVariant Identifiers: chrX:g.49957584T>G (hg19) ; chrX:g.50192933T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50192933T>G , CM000685.2:g.50192933T>G	GRCh38
NC_000023.10:g.49957584T>G , CM000685.1:g.49957584T>G	GRCh37
NC_000023.9:g.49844324T>G	NCBI36
NG_012552.1:g.13081A>C
NG_012552.2:g.13081A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358526.7:c.1780A>C MANE Select	ENSP00000351327.2:p.Lys594Gln
ENST00000358526.6:c.1780A>C	ENSP00000351327.2:p.Lys594Gln
ENST00000376064.7:c.1753A>C	ENSP00000365232.3:p.Lys585Gln
ENST00000448865.5:c.631A>C	ENSP00000402403.1:p.Lys211Gln
ENST00000481402.5:n.1892A>C
NM_003886.2:c.1780A>C	NP_003877.2:p.Lys594Gln
NM_139289.1:c.1753A>C	NP_647450.1:p.Lys585Gln
NM_003886.3:c.1780A>C MANE Select	NP_003877.2:p.Lys594Gln
NM_139289.2:c.1753A>C	NP_647450.1:p.Lys585Gln