Canonical Allele Identifier: CA345353871

Gene: EDARADD

Linked Data

• MyVariant Identifiers: chr1:g.236645711A>C (hg19) ; chr1:g.236482411A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236482411A>C , CM000663.2:g.236482411A>C	GRCh38
NC_000001.10:g.236645711A>C , CM000663.1:g.236645711A>C	GRCh37
NC_000001.9:g.234712334A>C	NCBI36
NG_011566.1:g.93032A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334232.9:c.410A>C MANE Select	ENSP00000335076.4:p.Lys137Thr
ENST00000359362.6:c.380A>C	ENSP00000352320.4:p.Lys127Thr
ENST00000637660.1:c.344A>C	ENSP00000490347.1:p.Lys115Thr
ENST00000642595.1:c.236-9326A>C	ENSP00000494458.1:n.236-9326A>C
ENST00000334232.8:c.410A>C	ENSP00000335076.4:p.Lys137Thr
ENST00000359362.5:c.380A>C	ENSP00000352320.4:p.Lys127Thr
NM_080738.3:c.380A>C	NP_542776.1:p.Lys127Thr
NM_145861.2:c.410A>C	NP_665860.2:p.Lys137Thr
NM_080738.4:c.380A>C	NP_542776.1:p.Lys127Thr
NM_145861.4:c.410A>C MANE Select	NP_665860.2:p.Lys137Thr