Canonical Allele Identifier: CA413448178
Gene: EDA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70027859A>G , CM000685.2:g.70027859A>G GRCh38
NC_000023.10:g.69247709A>G , CM000685.1:g.69247709A>G GRCh37
NC_000023.9:g.69164434A>G NCBI36
NG_009809.1:g.416799A>G
NG_009809.2:g.416793A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374552.9:c.529A>G MANE Select ENSP00000363680.4:p.Lys177Glu
ENST00000374552.8:c.529A>G ENSP00000363680.4:p.Lys177Glu
ENST00000374553.6:c.529A>G ENSP00000363681.2:p.Lys177Glu
ENST00000503592.5:c.133A>G ENSP00000423037.1:p.Lys45Glu
ENST00000524573.5:c.529A>G ENSP00000432585.1:p.Lys177Glu
ENST00000616899.1:c.133A>G ENSP00000481963.1:p.Lys45Glu
NM_001005609.1:c.529A>G NP_001005609.1:p.Lys177Glu
NM_001005612.2:c.529A>G NP_001005612.2:p.Lys177Glu
NM_001399.4:c.529A>G NP_001390.1:p.Lys177Glu
XM_006724630.2:c.529A>G XP_006724693.1:p.Lys177Glu
XM_011530885.1:c.529A>G XP_011529187.1:p.Lys177Glu
XM_011530885.2:c.529A>G XP_011529187.1:p.Lys177Glu
XM_017029336.1:c.529A>G XP_016884825.1:p.Lys177Glu
NM_001399.5:c.529A>G MANE Select NP_001390.1:p.Lys177Glu
NM_001005609.2:c.529A>G NP_001005609.1:p.Lys177Glu
NM_001005612.3:c.529A>G NP_001005612.2:p.Lys177Glu