Canonical Allele Identifier: CA345353887

Gene: EDARADD

Linked Data

• MyVariant Identifiers: chr1:g.236645715C>A (hg19) ; chr1:g.236482415C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236482415C>A , CM000663.2:g.236482415C>A	GRCh38
NC_000001.10:g.236645715C>A , CM000663.1:g.236645715C>A	GRCh37
NC_000001.9:g.234712338C>A	NCBI36
NG_011566.1:g.93036C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334232.9:c.414C>A MANE Select	ENSP00000335076.4:p.Asn138Lys
ENST00000359362.6:c.384C>A	ENSP00000352320.4:p.Asn128Lys
ENST00000637660.1:c.348C>A	ENSP00000490347.1:p.Asn116Lys
ENST00000642595.1:c.236-9322C>A	ENSP00000494458.1:n.236-9322C>A
ENST00000334232.8:c.414C>A	ENSP00000335076.4:p.Asn138Lys
ENST00000359362.5:c.384C>A	ENSP00000352320.4:p.Asn128Lys
NM_080738.3:c.384C>A	NP_542776.1:p.Asn128Lys
NM_145861.2:c.414C>A	NP_665860.2:p.Asn138Lys
NM_080738.4:c.384C>A	NP_542776.1:p.Asn128Lys
NM_145861.4:c.414C>A MANE Select	NP_665860.2:p.Asn138Lys