Canonical Allele Identifier: CA517014386
Gene: EDA HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.69176948C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.69957098C>G , CM000685.2:g.69957098C>G GRCh38
NC_000023.10:g.69176948C>G , CM000685.1:g.69176948C>G GRCh37
NC_000023.9:g.69093673C>G NCBI36
NG_009809.1:g.346038C>G
NG_009809.2:g.346032C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374552.9:c.468C>G MANE Select ENSP00000363680.4:p.Arg156=
ENST00000374548.5:n.710C>G
ENST00000374552.8:c.468C>G ENSP00000363680.4:p.Arg156=
ENST00000374553.6:c.468C>G ENSP00000363681.2:p.Arg156=
ENST00000502251.5:n.761C>G
ENST00000503592.5:c.72C>G ENSP00000423037.1:p.Arg24=
ENST00000524573.5:c.468C>G ENSP00000432585.1:p.Arg156=
ENST00000533317.5:n.1083C>G
ENST00000616899.1:c.72C>G ENSP00000481963.1:p.Arg24=
NM_001005609.1:c.468C>G NP_001005609.1:p.Arg156=
NM_001005612.2:c.468C>G NP_001005612.2:p.Arg156=
NM_001399.4:c.468C>G NP_001390.1:p.Arg156=
XM_006724630.2:c.468C>G XP_006724693.1:p.Arg156=
XM_011530885.1:c.468C>G XP_011529187.1:p.Arg156=
XM_011530885.2:c.468C>G XP_011529187.1:p.Arg156=
XM_017029336.1:c.468C>G XP_016884825.1:p.Arg156=
NM_001399.5:c.468C>G MANE Select NP_001390.1:p.Arg156=
NM_001005609.2:c.468C>G NP_001005609.1:p.Arg156=
NM_001005612.3:c.468C>G NP_001005612.2:p.Arg156=