Canonical Allele Identifier: CA8445642
Gene: AKAP10 HGNC NCBI

Linked Data

ClinVar Variation Id: 2606804
ClinVar RCV Id: RCV004349068
dbSNP Id: rs754614701
ExAC: 17:19812514 G / T
gnomAD v2: 17-19812514-G-T
gnomAD v3: 17-19909201-G-T
gnomAD v4: 17-19909201-G-T
MyVariant Identifiers: chr17:g.19812514G>T (hg19) chr17:g.19909201G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.19909201G>T , CM000679.2:g.19909201G>T GRCh38
NC_000017.10:g.19812514G>T , CM000679.1:g.19812514G>T GRCh37
NC_000017.9:g.19753106G>T NCBI36
NG_011493.1:g.73616C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225737.11:c.1963C>A MANE Select ENSP00000225737.6:p.Pro655Thr
ENST00000225737.10:c.1963C>A ENSP00000225737.6:p.Pro655Thr
ENST00000395536.7:c.1789C>A ENSP00000378907.3:p.Pro597Thr
ENST00000578898.1:c.390C>A
NM_007202.3:c.1963C>A NP_009133.2:p.Pro655Thr
XM_006721431.2:c.1835-2969C>A XP_006721494.1:n.1835-2969C>A
XM_006721432.2:c.1789C>A XP_006721495.1:p.Pro597Thr
XR_933969.1:n.2011C>A
XR_933970.1:n.1883-2969C>A
NM_001330152.1:c.1789C>A NP_001317081.1:p.Pro597Thr
XR_001752418.2:n.2075C>A
XR_933969.3:n.1994C>A
NM_007202.4:c.1963C>A MANE Select NP_009133.2:p.Pro655Thr
NM_001330152.2:c.1789C>A NP_001317081.1:p.Pro597Thr
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