Canonical Allele Identifier: CA413448036

Gene: EDA

Linked Data

• MyVariant Identifiers: chrX:g.69176977C>G (hg19) ; chrX:g.69957127C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.69957127C>G , CM000685.2:g.69957127C>G	GRCh38
NC_000023.10:g.69176977C>G , CM000685.1:g.69176977C>G	GRCh37
NC_000023.9:g.69093702C>G	NCBI36
NG_009809.1:g.346067C>G
NG_009809.2:g.346061C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.497C>G MANE Select	ENSP00000363680.4:p.Ala166Gly
ENST00000374548.5:n.739C>G
ENST00000374552.8:c.497C>G	ENSP00000363680.4:p.Ala166Gly
ENST00000374553.6:c.497C>G	ENSP00000363681.2:p.Ala166Gly
ENST00000502251.5:n.790C>G
ENST00000503592.5:c.101C>G	ENSP00000423037.1:p.Ala34Gly
ENST00000524573.5:c.497C>G	ENSP00000432585.1:p.Ala166Gly
ENST00000533317.5:n.1112C>G
ENST00000616899.1:c.101C>G	ENSP00000481963.1:p.Ala34Gly
NM_001005609.1:c.497C>G	NP_001005609.1:p.Ala166Gly
NM_001005612.2:c.497C>G	NP_001005612.2:p.Ala166Gly
NM_001399.4:c.497C>G	NP_001390.1:p.Ala166Gly
XM_006724630.2:c.497C>G	XP_006724693.1:p.Ala166Gly
XM_011530885.1:c.497C>G	XP_011529187.1:p.Ala166Gly
XM_011530885.2:c.497C>G	XP_011529187.1:p.Ala166Gly
XM_017029336.1:c.497C>G	XP_016884825.1:p.Ala166Gly
NM_001399.5:c.497C>G MANE Select	NP_001390.1:p.Ala166Gly
NM_001005609.2:c.497C>G	NP_001005609.1:p.Ala166Gly
NM_001005612.3:c.497C>G	NP_001005612.2:p.Ala166Gly