Canonical Allele Identifier: CA413449059

Gene: EDA

Linked Data

• MyVariant Identifiers: chrX:g.69253372G>T (hg19) ; chrX:g.70033522G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033522G>T , CM000685.2:g.70033522G>T	GRCh38
NC_000023.10:g.69253372G>T , CM000685.1:g.69253372G>T	GRCh37
NC_000023.9:g.69170097G>T	NCBI36
NG_009809.1:g.422462G>T
NG_009809.2:g.422456G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.918G>T MANE Select	ENSP00000363680.4:p.Gln306His
ENST00000374552.8:c.918G>T	ENSP00000363680.4:p.Gln306His
ENST00000374553.6:c.918G>T	ENSP00000363681.2:p.Gln306His
ENST00000524573.5:c.909G>T	ENSP00000432585.1:p.Gln303His
ENST00000616899.1:c.522G>T	ENSP00000481963.1:p.Gln174His
NM_001005609.1:c.918G>T	NP_001005609.1:p.Gln306His
NM_001005612.2:c.909G>T	NP_001005612.2:p.Gln303His
NM_001399.4:c.918G>T	NP_001390.1:p.Gln306His
XM_006724630.2:c.909G>T	XP_006724693.1:p.Gln303His
XM_011530885.1:c.918G>T	XP_011529187.1:p.Gln306His
XM_011530885.2:c.918G>T	XP_011529187.1:p.Gln306His
XM_017029336.1:c.882+36G>T	XP_016884825.1:n.882+36G>T
NM_001399.5:c.918G>T MANE Select	NP_001390.1:p.Gln306His
NM_001005609.2:c.918G>T	NP_001005609.1:p.Gln306His
NM_001005612.3:c.909G>T	NP_001005612.2:p.Gln303His