Canonical Allele Identifier: CA117512
Gene: AKAP10 HGNC NCBI

Linked Data

ClinVar Variation Id: 5404
ClinVar RCV Id: RCV000005735
dbSNP Id: rs203462

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.19909228T>C , CM000679.2:g.19909228T>C GRCh38
NC_000017.10:g.19812541T>C , CM000679.1:g.19812541T>C GRCh37
NC_000017.9:g.19753133T>C NCBI36
NG_011493.1:g.73589A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000225737.11:c.1936A>G MANE Select ENSP00000225737.6:p.Ile646Val
ENST00000225737.10:c.1936A>G ENSP00000225737.6:p.Ile646Val
ENST00000395536.7:n.1762A>G ENSP00000378907.3:p.Ile588Val
NM_007202.3:c.1936A>G NP_009133.2:p.Ile646Val
XM_006721431.2:c.1835-2996A>G XP_006721494.1:p.=
XM_006721432.2:c.1762A>G XP_006721495.1:p.Ile588Val
NM_001330152.1:c.1762A>G NP_001317081.1:p.Ile588Val
NM_007202.4:c.1936A>G MANE Select NP_009133.2:p.Ile646Val
NM_001330152.2:c.1762A>G NP_001317081.1:p.Ile588Val