Canonical Allele Identifier: CA255650

Gene: EDA

Linked Data

• ClinVar Variation Id: 11032
• ClinVar RCV Id: RCV000011779 ; RCV000218834 ; RCV000432524 ; RCV003894799
• dbSNP Id: rs132630309
• ExAC: X:68836358 G / T
• gnomAD v2: X-68836358-G-T
• gnomAD v3: X-69616514-G-T
• gnomAD v4: X-69616514-G-T
• MyVariant Identifiers: chrX:g.68836358G>T (hg19) ; chrX:g.69616514G>T (hg38)
• PubMed: PMID:8696334 ; PMID:11378824 ; PMID:21357618 ; PMID:23553579

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.69616514G>T , CM000685.2:g.69616514G>T	GRCh38
NC_000023.10:g.68836358G>T , CM000685.1:g.68836358G>T	GRCh37
NC_000023.9:g.68753083G>T	NCBI36
NG_009809.1:g.5448G>T
NG_009809.2:g.5448G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.206G>T MANE Select	ENSP00000363680.4:p.Arg69Leu
ENST00000338901.4:c.206G>T	ENSP00000340611.4:p.Arg69Leu
ENST00000374548.5:n.448G>T
ENST00000374552.8:c.206G>T	ENSP00000363680.4:p.Arg69Leu
ENST00000374553.6:c.206G>T	ENSP00000363681.2:p.Arg69Leu
ENST00000502251.5:n.448G>T
ENST00000524573.5:c.206G>T	ENSP00000432585.1:p.Arg69Leu
ENST00000525810.5:c.206G>T	ENSP00000434195.1:p.Arg69Leu
ENST00000527388.5:c.206G>T	ENSP00000434861.1:p.Arg69Leu
ENST00000533317.5:n.448G>T
NM_001005609.1:c.206G>T	NP_001005609.1:p.Arg69Leu
NM_001005610.3:c.206G>T	NP_001005610.2:p.Arg69Leu
NM_001005612.2:c.206G>T	NP_001005612.2:p.Arg69Leu
NM_001005613.3:c.206G>T	NP_001005613.1:p.Arg69Leu
NM_001399.4:c.206G>T	NP_001390.1:p.Arg69Leu
XM_006724630.2:c.206G>T	XP_006724693.1:p.Arg69Leu
XM_011530885.1:c.206G>T	XP_011529187.1:p.Arg69Leu
XM_011530885.2:c.206G>T	XP_011529187.1:p.Arg69Leu
XM_017029336.1:c.206G>T	XP_016884825.1:p.Arg69Leu
XM_017029337.1:c.206G>T	XP_016884826.1:p.Arg69Leu
XR_001755660.1:n.429G>T
NM_001399.5:c.206G>T MANE Select	NP_001390.1:p.Arg69Leu
NM_001005609.2:c.206G>T	NP_001005609.1:p.Arg69Leu
NM_001005610.4:c.206G>T	NP_001005610.2:p.Arg69Leu
NM_001005612.3:c.206G>T	NP_001005612.2:p.Arg69Leu
NM_001005613.4:c.206G>T	NP_001005613.1:p.Arg69Leu