Canonical Allele Identifier: CA261484

Gene: EDA

Linked Data

• ClinVar Variation Id: 44190
• ClinVar RCV Id: RCV000037166 ; RCV000255907 ; RCV001814027
• dbSNP Id: rs397516659
• MyVariant Identifiers: chrX:g.68836154T>C (hg19) ; chrX:g.69616310T>C (hg38)
• PubMed: PMID:11378824 ; PMID:18076698 ; PMID:18231121 ; PMID:20979233

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.69616310T>C , CM000685.2:g.69616310T>C	GRCh38
NC_000023.10:g.68836154T>C , CM000685.1:g.68836154T>C	GRCh37
NC_000023.9:g.68752879T>C	NCBI36
NG_009809.1:g.5244T>C
NG_009809.2:g.5244T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.2T>C MANE Select	ENSP00000363680.4:p.Met1Thr
ENST00000338901.4:c.2T>C	ENSP00000340611.4:p.Met1Thr
ENST00000374548.5:n.244T>C
ENST00000374552.8:c.2T>C	ENSP00000363680.4:p.Met1Thr
ENST00000374553.6:c.2T>C	ENSP00000363681.2:p.Met1Thr
ENST00000502251.5:n.244T>C
ENST00000524573.5:c.2T>C	ENSP00000432585.1:p.Met1Thr
ENST00000525810.5:c.2T>C	ENSP00000434195.1:p.Met1Thr
ENST00000527388.5:c.2T>C	ENSP00000434861.1:p.Met1Thr
ENST00000533317.5:n.244T>C
NM_001005609.1:c.2T>C	NP_001005609.1:p.Met1Thr
NM_001005610.3:c.2T>C	NP_001005610.2:p.Met1Thr
NM_001005612.2:c.2T>C	NP_001005612.2:p.Met1Thr
NM_001005613.3:c.2T>C	NP_001005613.1:p.Met1Thr
NM_001399.4:c.2T>C	NP_001390.1:p.Met1Thr
XM_006724630.2:c.2T>C	XP_006724693.1:p.Met1Thr
XM_011530885.1:c.2T>C	XP_011529187.1:p.Met1Thr
XM_011530885.2:c.2T>C	XP_011529187.1:p.Met1Thr
XM_017029336.1:c.2T>C	XP_016884825.1:p.Met1Thr
XM_017029337.1:c.2T>C	XP_016884826.1:p.Met1Thr
XR_001755660.1:n.225T>C
NM_001399.5:c.2T>C MANE Select	NP_001390.1:p.Met1Thr
NM_001005609.2:c.2T>C	NP_001005609.1:p.Met1Thr
NM_001005610.4:c.2T>C	NP_001005610.2:p.Met1Thr
NM_001005612.3:c.2T>C	NP_001005612.2:p.Met1Thr
NM_001005613.4:c.2T>C	NP_001005613.1:p.Met1Thr