Canonical Allele Identifier: CA413447995

Gene: EDA

Linked Data

• ClinVar Variation Id: 1675183
• ClinVar RCV Id: RCV002210930
• dbSNP Id: rs2147419234
• MyVariant Identifiers: chrX:g.69176960C>G (hg19) ; chrX:g.69957110C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.69957110C>G , CM000685.2:g.69957110C>G	GRCh38
NC_000023.10:g.69176960C>G , CM000685.1:g.69176960C>G	GRCh37
NC_000023.9:g.69093685C>G	NCBI36
NG_009809.1:g.346050C>G
NG_009809.2:g.346044C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.480C>G MANE Select	ENSP00000363680.4:p.Ser160Arg
ENST00000374548.5:n.722C>G
ENST00000374552.8:c.480C>G	ENSP00000363680.4:p.Ser160Arg
ENST00000374553.6:c.480C>G	ENSP00000363681.2:p.Ser160Arg
ENST00000502251.5:n.773C>G
ENST00000503592.5:c.84C>G	ENSP00000423037.1:p.Ser28Arg
ENST00000524573.5:c.480C>G	ENSP00000432585.1:p.Ser160Arg
ENST00000533317.5:n.1095C>G
ENST00000616899.1:c.84C>G	ENSP00000481963.1:p.Ser28Arg
NM_001005609.1:c.480C>G	NP_001005609.1:p.Ser160Arg
NM_001005612.2:c.480C>G	NP_001005612.2:p.Ser160Arg
NM_001399.4:c.480C>G	NP_001390.1:p.Ser160Arg
XM_006724630.2:c.480C>G	XP_006724693.1:p.Ser160Arg
XM_011530885.1:c.480C>G	XP_011529187.1:p.Ser160Arg
XM_011530885.2:c.480C>G	XP_011529187.1:p.Ser160Arg
XM_017029336.1:c.480C>G	XP_016884825.1:p.Ser160Arg
NM_001399.5:c.480C>G MANE Select	NP_001390.1:p.Ser160Arg
NM_001005609.2:c.480C>G	NP_001005609.1:p.Ser160Arg
NM_001005612.3:c.480C>G	NP_001005612.2:p.Ser160Arg