Canonical Allele Identifier: CA1470089
Gene: EDARADD HGNC NCBI

Linked Data

ClinVar Variation Id: 540293
dbSNP Id: rs757261515

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236482510G>A , CM000663.2:g.236482510G>A GRCh38
NC_000001.10:g.236645810G>A , CM000663.1:g.236645810G>A GRCh37
NC_000001.9:g.234712433G>A NCBI36
NG_011566.1:g.93131G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000334232.9:c.509G>A MANE Select ENSP00000335076.4:p.Arg170Gln
ENST00000359362.6:c.479G>A ENSP00000352320.4:p.Arg160Gln
ENST00000637660.1:c.443G>A ENSP00000490347.1:p.Arg148Gln
ENST00000642595.1:c.236-9227G>A ENSP00000494458.1:n.236-9227G>A
ENST00000334232.8:c.509G>A ENSP00000335076.4:p.Arg170Gln
ENST00000359362.5:c.479G>A ENSP00000352320.4:p.Arg160Gln
NM_080738.3:c.479G>A NP_542776.1:p.Arg160Gln
NM_145861.2:c.509G>A NP_665860.2:p.Arg170Gln
NM_080738.4:c.479G>A NP_542776.1:p.Arg160Gln
NM_145861.4:c.509G>A MANE Select NP_665860.2:p.Arg170Gln