Canonical Allele Identifier: CA413448184

Gene: EDA

Linked Data

• ClinVar Variation Id: 2830542
• ClinVar RCV Id: RCV003639965
• gnomAD v4: X-70027862-A-G
• MyVariant Identifiers: chrX:g.69247712A>G (hg19) ; chrX:g.70027862A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70027862A>G , CM000685.2:g.70027862A>G	GRCh38
NC_000023.10:g.69247712A>G , CM000685.1:g.69247712A>G	GRCh37
NC_000023.9:g.69164437A>G	NCBI36
NG_009809.1:g.416802A>G
NG_009809.2:g.416796A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.532A>G MANE Select	ENSP00000363680.4:p.Lys178Glu
ENST00000374552.8:c.532A>G	ENSP00000363680.4:p.Lys178Glu
ENST00000374553.6:c.532A>G	ENSP00000363681.2:p.Lys178Glu
ENST00000503592.5:c.136A>G	ENSP00000423037.1:p.Lys46Glu
ENST00000524573.5:c.532A>G	ENSP00000432585.1:p.Lys178Glu
ENST00000616899.1:c.136A>G	ENSP00000481963.1:p.Lys46Glu
NM_001005609.1:c.532A>G	NP_001005609.1:p.Lys178Glu
NM_001005612.2:c.532A>G	NP_001005612.2:p.Lys178Glu
NM_001399.4:c.532A>G	NP_001390.1:p.Lys178Glu
XM_006724630.2:c.532A>G	XP_006724693.1:p.Lys178Glu
XM_011530885.1:c.532A>G	XP_011529187.1:p.Lys178Glu
XM_011530885.2:c.532A>G	XP_011529187.1:p.Lys178Glu
XM_017029336.1:c.532A>G	XP_016884825.1:p.Lys178Glu
NM_001399.5:c.532A>G MANE Select	NP_001390.1:p.Lys178Glu
NM_001005609.2:c.532A>G	NP_001005609.1:p.Lys178Glu
NM_001005612.3:c.532A>G	NP_001005612.2:p.Lys178Glu