Canonical Allele Identifier: CA413449333

Gene: EDA

Linked Data

• ClinVar Variation Id: 528356
• ClinVar RCV Id: RCV000633504 ; RCV001266104
• dbSNP Id: rs1556110180
• MyVariant Identifiers: chrX:g.69255224T>C (hg19) ; chrX:g.70035374T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70035374T>C , CM000685.2:g.70035374T>C	GRCh38
NC_000023.10:g.69255224T>C , CM000685.1:g.69255224T>C	GRCh37
NC_000023.9:g.69171949T>C	NCBI36
NG_009809.1:g.424314T>C
NG_009809.2:g.424308T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.941T>C MANE Select	ENSP00000363680.4:p.Phe314Ser
ENST00000374552.8:c.941T>C	ENSP00000363680.4:p.Phe314Ser
ENST00000374553.6:c.935T>C	ENSP00000363681.2:p.Phe312Ser
ENST00000524573.5:c.926T>C	ENSP00000432585.1:p.Phe309Ser
ENST00000616899.1:c.545T>C	ENSP00000481963.1:p.Phe182Ser
NM_001005609.1:c.935T>C	NP_001005609.1:p.Phe312Ser
NM_001005612.2:c.926T>C	NP_001005612.2:p.Phe309Ser
NM_001399.4:c.941T>C	NP_001390.1:p.Phe314Ser
XM_006724630.2:c.932T>C	XP_006724693.1:p.Phe311Ser
XM_017029336.1:c.899T>C	XP_016884825.1:p.Phe300Ser
NM_001399.5:c.941T>C MANE Select	NP_001390.1:p.Phe314Ser
NM_001005609.2:c.935T>C	NP_001005609.1:p.Phe312Ser
NM_001005612.3:c.926T>C	NP_001005612.2:p.Phe309Ser