Canonical Allele Identifier: CA133749

Gene: EDA

Linked Data

• ClinVar Variation Id: 44201
• ClinVar RCV Id: RCV000037179
• dbSNP Id: rs397516669
• gnomAD v4: X-70027929-C-A
• MyVariant Identifiers: chrX:g.69247779C>A (hg19) ; chrX:g.70027929C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70027929C>A , CM000685.2:g.70027929C>A	GRCh38
NC_000023.10:g.69247779C>A , CM000685.1:g.69247779C>A	GRCh37
NC_000023.9:g.69164504C>A	NCBI36
NG_009809.1:g.416869C>A
NG_009809.2:g.416863C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.599C>A MANE Select	ENSP00000363680.4:p.Pro200Gln
ENST00000374552.8:c.599C>A	ENSP00000363680.4:p.Pro200Gln
ENST00000374553.6:c.599C>A	ENSP00000363681.2:p.Pro200Gln
ENST00000503592.5:c.203C>A	ENSP00000423037.1:p.Pro68Gln
ENST00000524573.5:c.599C>A	ENSP00000432585.1:p.Pro200Gln
ENST00000616899.1:c.203C>A	ENSP00000481963.1:p.Pro68Gln
NM_001005609.1:c.599C>A	NP_001005609.1:p.Pro200Gln
NM_001005612.2:c.599C>A	NP_001005612.2:p.Pro200Gln
NM_001399.4:c.599C>A	NP_001390.1:p.Pro200Gln
XM_006724630.2:c.599C>A	XP_006724693.1:p.Pro200Gln
XM_011530885.1:c.599C>A	XP_011529187.1:p.Pro200Gln
XM_011530885.2:c.599C>A	XP_011529187.1:p.Pro200Gln
XM_017029336.1:c.599C>A	XP_016884825.1:p.Pro200Gln
NM_001399.5:c.599C>A MANE Select	NP_001390.1:p.Pro200Gln
NM_001005609.2:c.599C>A	NP_001005609.1:p.Pro200Gln
NM_001005612.3:c.599C>A	NP_001005612.2:p.Pro200Gln