Canonical Allele Identifier: CA6467353
Gene: EPS8 HGNC NCBI

Linked Data

ClinVar Variation Id: 508572
dbSNP Id: rs78763451

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.15624339C>T , CM000674.2:g.15624339C>T GRCh38
NC_000012.11:g.15777273C>T , CM000674.1:g.15777273C>T GRCh37
NC_000012.10:g.15668540C>T NCBI36
NG_041808.1:g.170238G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000281172.10:c.2113G>A MANE Select ENSP00000281172.5:p.Ala705Thr
ENST00000642278.1:c.2113G>A ENSP00000494689.1:p.Ala705Thr
ENST00000642939.1:c.2164G>A ENSP00000495312.1:p.Ala722Thr
ENST00000644374.1:c.2113G>A ENSP00000495956.1:p.Ala705Thr
ENST00000645775.1:c.2113G>A ENSP00000495824.1:p.Ala705Thr
ENST00000646123.1:c.2137G>A ENSP00000494338.1:p.Ala713Thr
ENST00000646828.1:c.2113G>A ENSP00000494842.1:p.Ala705Thr
ENST00000646918.1:c.2113G>A ENSP00000495722.1:p.Ala705Thr
ENST00000647087.1:c.2113G>A ENSP00000496406.1:p.Ala705Thr
ENST00000647224.1:c.2113G>A ENSP00000496516.1:p.Ala705Thr
ENST00000281172.9:c.2113G>A ENSP00000281172.5:p.Ala705Thr
ENST00000540613.5:c.1333G>A ENSP00000441888.1:p.Ala445Thr
ENST00000542903.1:c.1333G>A ENSP00000437806.1:p.Ala445Thr
ENST00000543468.5:c.*1373G>A ENSP00000445985.1:n.*1373G>A
ENST00000543523.5:c.2113G>A ENSP00000441867.1:p.Ala705Thr
ENST00000543612.5:c.2113G>A ENSP00000442388.1:p.Ala705Thr
ENST00000545610.1:n.390G>A
NM_004447.5:c.2113G>A NP_004438.3:p.Ala705Thr
XM_005253339.1:c.2146G>A XP_005253396.1:p.Ala716Thr
XM_005253340.1:c.2113G>A XP_005253397.1:p.Ala705Thr
XM_006719057.1:c.2113G>A XP_006719120.1:p.Ala705Thr
XM_011520605.1:c.2173G>A XP_011518907.1:p.Ala725Thr
XM_011520606.1:c.2113G>A XP_011518908.1:p.Ala705Thr
XM_011520605.3:c.2173G>A XP_011518907.1:p.Ala725Thr
XM_024448878.1:c.2146G>A XP_024304646.1:p.Ala716Thr
XM_024448879.1:c.2113G>A XP_024304647.1:p.Ala705Thr
XM_024448880.1:c.2113G>A XP_024304648.1:p.Ala705Thr
XM_024448881.1:c.2113G>A XP_024304649.1:p.Ala705Thr
XM_024448882.1:c.2113G>A XP_024304650.1:p.Ala705Thr
NM_004447.6:c.2113G>A MANE Select NP_004438.3:p.Ala705Thr