Canonical Allele Identifier: CA413448690
Gene: EDA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70030496G>A , CM000685.2:g.70030496G>A GRCh38
NC_000023.10:g.69250346G>A , CM000685.1:g.69250346G>A GRCh37
NC_000023.9:g.69167071G>A NCBI36
NG_009809.1:g.419436G>A
NG_009809.2:g.419430G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374552.9:c.769G>A MANE Select ENSP00000363680.4:p.Gly257Arg
ENST00000374552.8:c.769G>A ENSP00000363680.4:p.Gly257Arg
ENST00000374553.6:c.769G>A ENSP00000363681.2:p.Gly257Arg
ENST00000503592.5:c.373G>A ENSP00000423037.1:p.Gly125Arg
ENST00000524573.5:c.769G>A ENSP00000432585.1:p.Gly257Arg
ENST00000616899.1:c.373G>A ENSP00000481963.1:p.Gly125Arg
NM_001005609.1:c.769G>A NP_001005609.1:p.Gly257Arg
NM_001005612.2:c.769G>A NP_001005612.2:p.Gly257Arg
NM_001399.4:c.769G>A NP_001390.1:p.Gly257Arg
XM_006724630.2:c.769G>A XP_006724693.1:p.Gly257Arg
XM_011530885.1:c.769G>A XP_011529187.1:p.Gly257Arg
XM_011530885.2:c.769G>A XP_011529187.1:p.Gly257Arg
XM_017029336.1:c.769G>A XP_016884825.1:p.Gly257Arg
NM_001399.5:c.769G>A MANE Select NP_001390.1:p.Gly257Arg
NM_001005609.2:c.769G>A NP_001005609.1:p.Gly257Arg
NM_001005612.3:c.769G>A NP_001005612.2:p.Gly257Arg