Canonical Allele Identifier: CA413190301
Gene: AKAP4 HGNC NCBI

Linked Data

dbSNP Id: rs1167483575

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50193076A>G , CM000685.2:g.50193076A>G GRCh38
NC_000023.10:g.49957727A>G , CM000685.1:g.49957727A>G GRCh37
NC_000023.9:g.49844467A>G NCBI36
NG_012552.1:g.12938T>C
NG_012552.2:g.12938T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.1637T>C MANE Select ENSP00000351327.2:p.Val546Ala
ENST00000358526.6:c.1637T>C ENSP00000351327.2:p.Val546Ala
ENST00000376064.7:c.1610T>C ENSP00000365232.3:p.Val537Ala
ENST00000448865.5:c.542-54T>C ENSP00000402403.1:n.542-54T>C
ENST00000481402.5:n.1749T>C
NM_003886.2:c.1637T>C NP_003877.2:p.Val546Ala
NM_139289.1:c.1610T>C NP_647450.1:p.Val537Ala
NM_003886.3:c.1637T>C MANE Select NP_003877.2:p.Val546Ala
NM_139289.2:c.1610T>C NP_647450.1:p.Val537Ala