Canonical Allele Identifier: CA11413255
Gene: EPHA3 HGNC NCBI

Linked Data

dbSNP Id: rs9836340
gnomAD v2: 3-89405754-A-G
gnomAD v3: 3-89356604-A-G
gnomAD v4: 3-89356604-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.89356604A>G , CM000665.2:g.89356604A>G GRCh38
NC_000003.11:g.89405754A>G , CM000665.1:g.89405754A>G GRCh37
NC_000003.10:g.89488444A>G NCBI36
NG_023239.1:g.254081A>G
NG_023239.2:g.254081A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000336596.7:c.1306+14514A>G MANE Select ENSP00000337451.2:n.1306+14514A>G
ENST00000336596.6:c.1306+14514A>G ENSP00000337451.2:n.1306+14514A>G
ENST00000452448.6:c.1306+14514A>G ENSP00000399926.2:n.1306+14514A>G
ENST00000494014.1:c.1306+14514A>G ENSP00000419190.1:n.1306+14514A>G
NM_005233.5:c.1306+14514A>G NP_005224.2:n.1306+14514A>G
NM_182644.2:c.1306+14514A>G NP_872585.1:n.1306+14514A>G
XM_005264715.1:c.1306+14514A>G XP_005264772.1:n.1306+14514A>G
XM_005264716.1:c.1306+14514A>G XP_005264773.1:n.1306+14514A>G
XM_005264715.3:c.1306+14514A>G XP_005264772.1:n.1306+14514A>G
XM_005264716.3:c.1306+14514A>G XP_005264773.1:n.1306+14514A>G
NM_005233.6:c.1306+14514A>G MANE Select NP_005224.2:n.1306+14514A>G
NM_182644.3:c.1306+14514A>G NP_872585.1:n.1306+14514A>G