Canonical Allele Identifier: CA424029858
Gene: EDARADD HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.236645703A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236482403A>C , CM000663.2:g.236482403A>C GRCh38
NC_000001.10:g.236645703A>C , CM000663.1:g.236645703A>C GRCh37
NC_000001.9:g.234712326A>C NCBI36
NG_011566.1:g.93024A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000334232.9:c.402A>C MANE Select ENSP00000335076.4:p.Pro134=
ENST00000359362.6:c.372A>C ENSP00000352320.4:p.Pro124=
ENST00000637660.1:c.336A>C ENSP00000490347.1:p.Pro112=
ENST00000642595.1:c.236-9334A>C ENSP00000494458.1:n.236-9334A>C
ENST00000334232.8:c.402A>C ENSP00000335076.4:p.Pro134=
ENST00000359362.5:c.372A>C ENSP00000352320.4:p.Pro124=
NM_080738.3:c.372A>C NP_542776.1:p.Pro124=
NM_145861.2:c.402A>C NP_665860.2:p.Pro134=
NM_080738.4:c.372A>C NP_542776.1:p.Pro124=
NM_145861.4:c.402A>C MANE Select NP_665860.2:p.Pro134=