Canonical Allele Identifier: CA413187539

Gene: AKAP4

Linked Data

• dbSNP Id: rs1935124376
• gnomAD v4: X-50192414-T-A
• MyVariant Identifiers: chrX:g.49957065T>A (hg19) ; chrX:g.50192414T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50192414T>A , CM000685.2:g.50192414T>A	GRCh38
NC_000023.10:g.49957065T>A , CM000685.1:g.49957065T>A	GRCh37
NC_000023.9:g.49843805T>A	NCBI36
NG_012552.1:g.13600A>T
NG_012552.2:g.13600A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358526.7:c.2299A>T MANE Select	ENSP00000351327.2:p.Thr767Ser
ENST00000358526.6:c.2299A>T	ENSP00000351327.2:p.Thr767Ser
ENST00000376064.7:c.2272A>T	ENSP00000365232.3:p.Thr758Ser
ENST00000481402.5:n.2411A>T
NM_003886.2:c.2299A>T	NP_003877.2:p.Thr767Ser
NM_139289.1:c.2272A>T	NP_647450.1:p.Thr758Ser
NM_003886.3:c.2299A>T MANE Select	NP_003877.2:p.Thr767Ser
NM_139289.2:c.2272A>T	NP_647450.1:p.Thr758Ser