Canonical Allele Identifier: CA345353490

Gene: EDARADD

Linked Data

• MyVariant Identifiers: chr1:g.236645608T>A (hg19) ; chr1:g.236482308T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236482308T>A , CM000663.2:g.236482308T>A	GRCh38
NC_000001.10:g.236645608T>A , CM000663.1:g.236645608T>A	GRCh37
NC_000001.9:g.234712231T>A	NCBI36
NG_011566.1:g.92929T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334232.9:c.307T>A MANE Select	ENSP00000335076.4:p.Ser103Thr
ENST00000359362.6:c.277T>A	ENSP00000352320.4:p.Ser93Thr
ENST00000637660.1:c.241T>A	ENSP00000490347.1:p.Ser81Thr
ENST00000642595.1:c.236-9429T>A	ENSP00000494458.1:n.236-9429T>A
ENST00000334232.8:c.307T>A	ENSP00000335076.4:p.Ser103Thr
ENST00000359362.5:c.277T>A	ENSP00000352320.4:p.Ser93Thr
ENST00000439430.5:c.241T>A	ENSP00000405815.1:p.Ser81Thr
NM_080738.3:c.277T>A	NP_542776.1:p.Ser93Thr
NM_145861.2:c.307T>A	NP_665860.2:p.Ser103Thr
NM_080738.4:c.277T>A	NP_542776.1:p.Ser93Thr
NM_145861.4:c.307T>A MANE Select	NP_665860.2:p.Ser103Thr