Canonical Allele Identifier: CA413447870

Gene: EDA

Linked Data

• MyVariant Identifiers: chrX:g.69176902C>G (hg19) ; chrX:g.69957052C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.69957052C>G , CM000685.2:g.69957052C>G	GRCh38
NC_000023.10:g.69176902C>G , CM000685.1:g.69176902C>G	GRCh37
NC_000023.9:g.69093627C>G	NCBI36
NG_009809.1:g.345992C>G
NG_009809.2:g.345986C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.422C>G MANE Select	ENSP00000363680.4:p.Pro141Arg
ENST00000374548.5:n.664C>G
ENST00000374552.8:c.422C>G	ENSP00000363680.4:p.Pro141Arg
ENST00000374553.6:c.422C>G	ENSP00000363681.2:p.Pro141Arg
ENST00000502251.5:n.715C>G
ENST00000503592.5:c.26C>G	ENSP00000423037.1:p.Pro9Arg
ENST00000524573.5:c.422C>G	ENSP00000432585.1:p.Pro141Arg
ENST00000533317.5:n.1037C>G
ENST00000616899.1:c.26C>G	ENSP00000481963.1:p.Pro9Arg
NM_001005609.1:c.422C>G	NP_001005609.1:p.Pro141Arg
NM_001005612.2:c.422C>G	NP_001005612.2:p.Pro141Arg
NM_001399.4:c.422C>G	NP_001390.1:p.Pro141Arg
XM_006724630.2:c.422C>G	XP_006724693.1:p.Pro141Arg
XM_011530885.1:c.422C>G	XP_011529187.1:p.Pro141Arg
XM_011530885.2:c.422C>G	XP_011529187.1:p.Pro141Arg
XM_017029336.1:c.422C>G	XP_016884825.1:p.Pro141Arg
NM_001399.5:c.422C>G MANE Select	NP_001390.1:p.Pro141Arg
NM_001005609.2:c.422C>G	NP_001005609.1:p.Pro141Arg
NM_001005612.3:c.422C>G	NP_001005612.2:p.Pro141Arg