Canonical Allele Identifier: CA10439036
Gene: EDA HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.70035434G>A
GRCh37 chrX:g.69255284G>A
Revel Score:
ENST00000374552 (MANE Select) 0.769
ENST00000374553 0.769
ENST00000524573 0.769
gnomAD v2:
X:69255284 G / A
gnomAD v3:
X:70035434 G / A
gnomAD v4:
chrX-70035434-G-A
Joint Max Group AF 0.00534908 (EAS)
Genomes Max Group AF 0.01138139 (EAS)
Exomes Max Group AF 0.0043839 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70035434G>A , CM000685.2:g.70035434G>A GRCh38
NC_000023.10:g.69255284G>A , CM000685.1:g.69255284G>A GRCh37
NC_000023.9:g.69172009G>A NCBI36
NG_009809.1:g.424374G>A
NG_009809.2:g.424368G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374552.9:c.1001G>A MANE Select ENSP00000363680.4:p.Arg334His
ENST00000374552.8:c.1001G>A ENSP00000363680.4:p.Arg334His
ENST00000374553.6:c.995G>A ENSP00000363681.2:p.Arg332His
ENST00000524573.5:c.986G>A ENSP00000432585.1:p.Arg329His
ENST00000616899.1:c.605G>A ENSP00000481963.1:p.Arg202His
NM_001005609.1:c.995G>A NP_001005609.1:p.Arg332His
NM_001005612.2:c.986G>A NP_001005612.2:p.Arg329His
NM_001399.4:c.1001G>A NP_001390.1:p.Arg334His
XM_006724630.2:c.992G>A XP_006724693.1:p.Arg331His
XM_017029336.1:c.959G>A XP_016884825.1:p.Arg320His
NM_001399.5:c.1001G>A MANE Select NP_001390.1:p.Arg334His
NM_001005609.2:c.995G>A NP_001005609.1:p.Arg332His
NM_001005612.3:c.986G>A NP_001005612.2:p.Arg329His
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