Canonical Allele Identifier: CA181048

Gene: EDA

Linked Data

• ClinVar Variation Id: 11038
• ClinVar RCV Id: RCV000011785 ; RCV000154610
• dbSNP Id: rs132630315
• MyVariant Identifiers: chrX:g.69247806C>T (hg19) ; chrX:g.70027956C>T (hg38)
• PubMed: PMID:9683615

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70027956C>T , CM000685.2:g.70027956C>T	GRCh38
NC_000023.10:g.69247806C>T , CM000685.1:g.69247806C>T	GRCh37
NC_000023.9:g.69164531C>T	NCBI36
NG_009809.1:g.416896C>T
NG_009809.2:g.416890C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.626C>T MANE Select	ENSP00000363680.4:p.Pro209Leu
ENST00000374552.8:c.626C>T	ENSP00000363680.4:p.Pro209Leu
ENST00000374553.6:c.626C>T	ENSP00000363681.2:p.Pro209Leu
ENST00000503592.5:c.230C>T	ENSP00000423037.1:p.Pro77Leu
ENST00000524573.5:c.626C>T	ENSP00000432585.1:p.Pro209Leu
ENST00000616899.1:c.230C>T	ENSP00000481963.1:p.Pro77Leu
NM_001005609.1:c.626C>T	NP_001005609.1:p.Pro209Leu
NM_001005612.2:c.626C>T	NP_001005612.2:p.Pro209Leu
NM_001399.4:c.626C>T	NP_001390.1:p.Pro209Leu
XM_006724630.2:c.626C>T	XP_006724693.1:p.Pro209Leu
XM_011530885.1:c.626C>T	XP_011529187.1:p.Pro209Leu
XM_011530885.2:c.626C>T	XP_011529187.1:p.Pro209Leu
XM_017029336.1:c.626C>T	XP_016884825.1:p.Pro209Leu
NM_001399.5:c.626C>T MANE Select	NP_001390.1:p.Pro209Leu
NM_001005609.2:c.626C>T	NP_001005609.1:p.Pro209Leu
NM_001005612.3:c.626C>T	NP_001005612.2:p.Pro209Leu