Canonical Allele Identifier: CA398726215

Gene: AKAP10

Linked Data

• gnomAD v4: 17-19909265-C-A
• MyVariant Identifiers: chr17:g.19812578C>A (hg19) ; chr17:g.19909265C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19909265C>A , CM000679.2:g.19909265C>A	GRCh38
NC_000017.10:g.19812578C>A , CM000679.1:g.19812578C>A	GRCh37
NC_000017.9:g.19753170C>A	NCBI36
NG_011493.1:g.73552G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225737.11:c.1899G>T MANE Select	ENSP00000225737.6:p.Glu633Asp
ENST00000225737.10:c.1899G>T	ENSP00000225737.6:p.Glu633Asp
ENST00000395536.7:c.1725G>T	ENSP00000378907.3:p.Glu575Asp
ENST00000578898.1:c.326G>T
ENST00000583951.1:c.210G>T	ENSP00000463398.1:p.Glu70Asp
NM_007202.3:c.1899G>T	NP_009133.2:p.Glu633Asp
XM_006721431.2:c.1835-3033G>T	XP_006721494.1:n.1835-3033G>T
XM_006721432.2:c.1725G>T	XP_006721495.1:p.Glu575Asp
XR_933969.1:n.1947G>T
XR_933970.1:n.1883-3033G>T
NM_001330152.1:c.1725G>T	NP_001317081.1:p.Glu575Asp
XR_001752418.2:n.2011G>T
XR_933969.3:n.1930G>T
NM_007202.4:c.1899G>T MANE Select	NP_009133.2:p.Glu633Asp
NM_001330152.2:c.1725G>T	NP_001317081.1:p.Glu575Asp