Canonical Allele Identifier: CA345353507

Gene: EDARADD

Linked Data

• MyVariant Identifiers: chr1:g.236645616C>G (hg19) ; chr1:g.236482316C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236482316C>G , CM000663.2:g.236482316C>G	GRCh38
NC_000001.10:g.236645616C>G , CM000663.1:g.236645616C>G	GRCh37
NC_000001.9:g.234712239C>G	NCBI36
NG_011566.1:g.92937C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334232.9:c.315C>G MANE Select	ENSP00000335076.4:p.Cys105Trp
ENST00000359362.6:c.285C>G	ENSP00000352320.4:p.Cys95Trp
ENST00000637660.1:c.249C>G	ENSP00000490347.1:p.Cys83Trp
ENST00000642595.1:c.236-9421C>G	ENSP00000494458.1:n.236-9421C>G
ENST00000334232.8:c.315C>G	ENSP00000335076.4:p.Cys105Trp
ENST00000359362.5:c.285C>G	ENSP00000352320.4:p.Cys95Trp
ENST00000439430.5:c.249C>G	ENSP00000405815.1:p.Cys83Trp
NM_080738.3:c.285C>G	NP_542776.1:p.Cys95Trp
NM_145861.2:c.315C>G	NP_665860.2:p.Cys105Trp
NM_080738.4:c.285C>G	NP_542776.1:p.Cys95Trp
NM_145861.4:c.315C>G MANE Select	NP_665860.2:p.Cys105Trp