Canonical Allele Identifier: CA413447911

Gene: EDA

Linked Data

• gnomAD v4: X-69957069-T-G
• MyVariant Identifiers: chrX:g.69176919T>G (hg19) ; chrX:g.69957069T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.69957069T>G , CM000685.2:g.69957069T>G	GRCh38
NC_000023.10:g.69176919T>G , CM000685.1:g.69176919T>G	GRCh37
NC_000023.9:g.69093644T>G	NCBI36
NG_009809.1:g.346009T>G
NG_009809.2:g.346003T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.439T>G MANE Select	ENSP00000363680.4:p.Ser147Ala
ENST00000374548.5:n.681T>G
ENST00000374552.8:c.439T>G	ENSP00000363680.4:p.Ser147Ala
ENST00000374553.6:c.439T>G	ENSP00000363681.2:p.Ser147Ala
ENST00000502251.5:n.732T>G
ENST00000503592.5:c.43T>G	ENSP00000423037.1:p.Ser15Ala
ENST00000524573.5:c.439T>G	ENSP00000432585.1:p.Ser147Ala
ENST00000533317.5:n.1054T>G
ENST00000616899.1:c.43T>G	ENSP00000481963.1:p.Ser15Ala
NM_001005609.1:c.439T>G	NP_001005609.1:p.Ser147Ala
NM_001005612.2:c.439T>G	NP_001005612.2:p.Ser147Ala
NM_001399.4:c.439T>G	NP_001390.1:p.Ser147Ala
XM_006724630.2:c.439T>G	XP_006724693.1:p.Ser147Ala
XM_011530885.1:c.439T>G	XP_011529187.1:p.Ser147Ala
XM_011530885.2:c.439T>G	XP_011529187.1:p.Ser147Ala
XM_017029336.1:c.439T>G	XP_016884825.1:p.Ser147Ala
NM_001399.5:c.439T>G MANE Select	NP_001390.1:p.Ser147Ala
NM_001005609.2:c.439T>G	NP_001005609.1:p.Ser147Ala
NM_001005612.3:c.439T>G	NP_001005612.2:p.Ser147Ala