Canonical Allele Identifier: CA424029865
Gene: EDARADD HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.236645709G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236482409G>A , CM000663.2:g.236482409G>A GRCh38
NC_000001.10:g.236645709G>A , CM000663.1:g.236645709G>A GRCh37
NC_000001.9:g.234712332G>A NCBI36
NG_011566.1:g.93030G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000334232.9:c.408G>A MANE Select ENSP00000335076.4:p.Val136=
ENST00000359362.6:c.378G>A ENSP00000352320.4:p.Val126=
ENST00000637660.1:c.342G>A ENSP00000490347.1:p.Val114=
ENST00000642595.1:c.236-9328G>A ENSP00000494458.1:n.236-9328G>A
ENST00000334232.8:c.408G>A ENSP00000335076.4:p.Val136=
ENST00000359362.5:c.378G>A ENSP00000352320.4:p.Val126=
NM_080738.3:c.378G>A NP_542776.1:p.Val126=
NM_145861.2:c.408G>A NP_665860.2:p.Val136=
NM_080738.4:c.378G>A NP_542776.1:p.Val126=
NM_145861.4:c.408G>A MANE Select NP_665860.2:p.Val136=