Canonical Allele Identifier: CA345353483

Gene: EDARADD

Linked Data

• MyVariant Identifiers: chr1:g.236645605T>C (hg19) ; chr1:g.236482305T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236482305T>C , CM000663.2:g.236482305T>C	GRCh38
NC_000001.10:g.236645605T>C , CM000663.1:g.236645605T>C	GRCh37
NC_000001.9:g.234712228T>C	NCBI36
NG_011566.1:g.92926T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000334232.9:c.304T>C MANE Select	ENSP00000335076.4:p.Cys102Arg
ENST00000359362.6:c.274T>C	ENSP00000352320.4:p.Cys92Arg
ENST00000637660.1:c.238T>C	ENSP00000490347.1:p.Cys80Arg
ENST00000642595.1:c.236-9432T>C	ENSP00000494458.1:n.236-9432T>C
ENST00000334232.8:c.304T>C	ENSP00000335076.4:p.Cys102Arg
ENST00000359362.5:c.274T>C	ENSP00000352320.4:p.Cys92Arg
ENST00000439430.5:c.238T>C	ENSP00000405815.1:p.Cys80Arg
NM_080738.3:c.274T>C	NP_542776.1:p.Cys92Arg
NM_145861.2:c.304T>C	NP_665860.2:p.Cys102Arg
NM_080738.4:c.274T>C	NP_542776.1:p.Cys92Arg
NM_145861.4:c.304T>C MANE Select	NP_665860.2:p.Cys102Arg