Canonical Allele Identifier: CA10586192

Gene: EDARADD

Linked Data

• ClinVar Variation Id: 253092
• ClinVar RCV Id: RCV000239549 ; RCV003765486
• dbSNP Id: rs879255629
• MyVariant Identifiers: chr1:g.236645668G>A (hg19) ; chr1:g.236482368G>A (hg38)
• PubMed: PMID:26440664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236482368G>A , CM000663.2:g.236482368G>A	GRCh38
NC_000001.10:g.236645668G>A , CM000663.1:g.236645668G>A	GRCh37
NC_000001.9:g.234712291G>A	NCBI36
NG_011566.1:g.92989G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334232.9:c.367G>A MANE Select	ENSP00000335076.4:p.Asp123Asn
ENST00000359362.6:c.337G>A	ENSP00000352320.4:p.Asp113Asn
ENST00000637660.1:c.301G>A	ENSP00000490347.1:p.Asp101Asn
ENST00000642595.1:c.236-9369G>A	ENSP00000494458.1:n.236-9369G>A
ENST00000334232.8:c.367G>A	ENSP00000335076.4:p.Asp123Asn
ENST00000359362.5:c.337G>A	ENSP00000352320.4:p.Asp113Asn
NM_080738.3:c.337G>A	NP_542776.1:p.Asp113Asn
NM_145861.2:c.367G>A	NP_665860.2:p.Asp123Asn
NM_080738.4:c.337G>A	NP_542776.1:p.Asp113Asn
NM_145861.4:c.367G>A MANE Select	NP_665860.2:p.Asp123Asn