Canonical Allele Identifier: CA10577178

Gene: EDA

Linked Data

• ClinVar Variation Id: 228258
• ClinVar RCV Id: RCV000214953
• dbSNP Id: rs876657642
• MyVariant Identifiers: chrX:g.69253365A>C (hg19) ; chrX:g.70033515A>C (hg38)
• PubMed: PMID:17970812 ; PMID:21357618 ; PMID:23553579

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033515A>C , CM000685.2:g.70033515A>C	GRCh38
NC_000023.10:g.69253365A>C , CM000685.1:g.69253365A>C	GRCh37
NC_000023.9:g.69170090A>C	NCBI36
NG_009809.1:g.422455A>C
NG_009809.2:g.422449A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.911A>C MANE Select	ENSP00000363680.4:p.Tyr304Ser
ENST00000374552.8:c.911A>C	ENSP00000363680.4:p.Tyr304Ser
ENST00000374553.6:c.911A>C	ENSP00000363681.2:p.Tyr304Ser
ENST00000524573.5:c.902A>C	ENSP00000432585.1:p.Tyr301Ser
ENST00000616899.1:c.515A>C	ENSP00000481963.1:p.Tyr172Ser
NM_001005609.1:c.911A>C	NP_001005609.1:p.Tyr304Ser
NM_001005612.2:c.902A>C	NP_001005612.2:p.Tyr301Ser
NM_001399.4:c.911A>C	NP_001390.1:p.Tyr304Ser
XM_006724630.2:c.902A>C	XP_006724693.1:p.Tyr301Ser
XM_011530885.1:c.911A>C	XP_011529187.1:p.Tyr304Ser
XM_011530885.2:c.911A>C	XP_011529187.1:p.Tyr304Ser
XM_017029336.1:c.882+29A>C	XP_016884825.1:n.882+29A>C
NM_001399.5:c.911A>C MANE Select	NP_001390.1:p.Tyr304Ser
NM_001005609.2:c.911A>C	NP_001005609.1:p.Tyr304Ser
NM_001005612.3:c.902A>C	NP_001005612.2:p.Tyr301Ser