Canonical Allele Identifier: CA413190272
Gene: AKAP4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50193067A>T , CM000685.2:g.50193067A>T GRCh38
NC_000023.10:g.49957718A>T , CM000685.1:g.49957718A>T GRCh37
NC_000023.9:g.49844458A>T NCBI36
NG_012552.1:g.12947T>A
NG_012552.2:g.12947T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.1646T>A MANE Select ENSP00000351327.2:p.Leu549His
ENST00000358526.6:c.1646T>A ENSP00000351327.2:p.Leu549His
ENST00000376064.7:c.1619T>A ENSP00000365232.3:p.Leu540His
ENST00000448865.5:c.542-45T>A ENSP00000402403.1:n.542-45T>A
ENST00000481402.5:n.1758T>A
NM_003886.2:c.1646T>A NP_003877.2:p.Leu549His
NM_139289.1:c.1619T>A NP_647450.1:p.Leu540His
NM_003886.3:c.1646T>A MANE Select NP_003877.2:p.Leu549His
NM_139289.2:c.1619T>A NP_647450.1:p.Leu540His