Canonical Allele Identifier: CA517014759
Gene: EDA HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.69255216C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70035366C>T , CM000685.2:g.70035366C>T GRCh38
NC_000023.10:g.69255216C>T , CM000685.1:g.69255216C>T GRCh37
NC_000023.9:g.69171941C>T NCBI36
NG_009809.1:g.424306C>T
NG_009809.2:g.424300C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000374552.9:c.933C>T MANE Select ENSP00000363680.4:p.Tyr311=
ENST00000374552.8:c.933C>T ENSP00000363680.4:p.Tyr311=
ENST00000374553.6:c.927C>T ENSP00000363681.2:p.Tyr309=
ENST00000524573.5:c.918C>T ENSP00000432585.1:p.Tyr306=
ENST00000616899.1:c.537C>T ENSP00000481963.1:p.Tyr179=
NM_001005609.1:c.927C>T NP_001005609.1:p.Tyr309=
NM_001005612.2:c.918C>T NP_001005612.2:p.Tyr306=
NM_001399.4:c.933C>T NP_001390.1:p.Tyr311=
XM_006724630.2:c.924C>T XP_006724693.1:p.Tyr308=
XM_017029336.1:c.891C>T XP_016884825.1:p.Tyr297=
NM_001399.5:c.933C>T MANE Select NP_001390.1:p.Tyr311=
NM_001005609.2:c.927C>T NP_001005609.1:p.Tyr309=
NM_001005612.3:c.918C>T NP_001005612.2:p.Tyr306=