Canonical Allele Identifier: CA413190344

Gene: AKAP4

Linked Data

• dbSNP Id: rs1935135651
• gnomAD v4: X-50193085-T-C
• MyVariant Identifiers: chrX:g.49957736T>C (hg19) ; chrX:g.50193085T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50193085T>C , CM000685.2:g.50193085T>C	GRCh38
NC_000023.10:g.49957736T>C , CM000685.1:g.49957736T>C	GRCh37
NC_000023.9:g.49844476T>C	NCBI36
NG_012552.1:g.12929A>G
NG_012552.2:g.12929A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358526.7:c.1628A>G MANE Select	ENSP00000351327.2:p.Asp543Gly
ENST00000358526.6:c.1628A>G	ENSP00000351327.2:p.Asp543Gly
ENST00000376064.7:c.1601A>G	ENSP00000365232.3:p.Asp534Gly
ENST00000448865.5:c.542-63A>G	ENSP00000402403.1:n.542-63A>G
ENST00000481402.5:n.1740A>G
NM_003886.2:c.1628A>G	NP_003877.2:p.Asp543Gly
NM_139289.1:c.1601A>G	NP_647450.1:p.Asp534Gly
NM_003886.3:c.1628A>G MANE Select	NP_003877.2:p.Asp543Gly
NM_139289.2:c.1601A>G	NP_647450.1:p.Asp534Gly