Canonical Allele Identifier: CA413449019
Gene: EDA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70033512T>G , CM000685.2:g.70033512T>G GRCh38
NC_000023.10:g.69253362T>G , CM000685.1:g.69253362T>G GRCh37
NC_000023.9:g.69170087T>G NCBI36
NG_009809.1:g.422452T>G
NG_009809.2:g.422446T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000374552.9:c.908T>G MANE Select ENSP00000363680.4:p.Ile303Ser
ENST00000374552.8:c.908T>G ENSP00000363680.4:p.Ile303Ser
ENST00000374553.6:c.908T>G ENSP00000363681.2:p.Ile303Ser
ENST00000524573.5:c.899T>G ENSP00000432585.1:p.Ile300Ser
ENST00000616899.1:c.512T>G ENSP00000481963.1:p.Ile171Ser
NM_001005609.1:c.908T>G NP_001005609.1:p.Ile303Ser
NM_001005612.2:c.899T>G NP_001005612.2:p.Ile300Ser
NM_001399.4:c.908T>G NP_001390.1:p.Ile303Ser
XM_006724630.2:c.899T>G XP_006724693.1:p.Ile300Ser
XM_011530885.1:c.908T>G XP_011529187.1:p.Ile303Ser
XM_011530885.2:c.908T>G XP_011529187.1:p.Ile303Ser
XM_017029336.1:c.882+26T>G XP_016884825.1:n.882+26T>G
NM_001399.5:c.908T>G MANE Select NP_001390.1:p.Ile303Ser
NM_001005609.2:c.908T>G NP_001005609.1:p.Ile303Ser
NM_001005612.3:c.899T>G NP_001005612.2:p.Ile300Ser