Canonical Allele Identifier: CA413190332
Gene: AKAP4 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.49957733A>C (hg19) chrX:g.50193082A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50193082A>C , CM000685.2:g.50193082A>C GRCh38
NC_000023.10:g.49957733A>C , CM000685.1:g.49957733A>C GRCh37
NC_000023.9:g.49844473A>C NCBI36
NG_012552.1:g.12932T>G
NG_012552.2:g.12932T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.1631T>G MANE Select ENSP00000351327.2:p.Leu544Arg
ENST00000358526.6:c.1631T>G ENSP00000351327.2:p.Leu544Arg
ENST00000376064.7:c.1604T>G ENSP00000365232.3:p.Leu535Arg
ENST00000448865.5:c.542-60T>G ENSP00000402403.1:n.542-60T>G
ENST00000481402.5:n.1743T>G
NM_003886.2:c.1631T>G NP_003877.2:p.Leu544Arg
NM_139289.1:c.1604T>G NP_647450.1:p.Leu535Arg
NM_003886.3:c.1631T>G MANE Select NP_003877.2:p.Leu544Arg
NM_139289.2:c.1604T>G NP_647450.1:p.Leu535Arg
Search 100 bp 5'
Search 100 bp 3'