Canonical Allele Identifier: CA517014800

Gene: EDA

Linked Data

• gnomAD v4: X-70035378-T-C
• MyVariant Identifiers: chrX:g.69255228T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70035378T>C , CM000685.2:g.70035378T>C	GRCh38
NC_000023.10:g.69255228T>C , CM000685.1:g.69255228T>C	GRCh37
NC_000023.9:g.69171953T>C	NCBI36
NG_009809.1:g.424318T>C
NG_009809.2:g.424312T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.945T>C MANE Select	ENSP00000363680.4:p.Thr315=
ENST00000374552.8:c.945T>C	ENSP00000363680.4:p.Thr315=
ENST00000374553.6:c.939T>C	ENSP00000363681.2:p.Thr313=
ENST00000524573.5:c.930T>C	ENSP00000432585.1:p.Thr310=
ENST00000616899.1:c.549T>C	ENSP00000481963.1:p.Thr183=
NM_001005609.1:c.939T>C	NP_001005609.1:p.Thr313=
NM_001005612.2:c.930T>C	NP_001005612.2:p.Thr310=
NM_001399.4:c.945T>C	NP_001390.1:p.Thr315=
XM_006724630.2:c.936T>C	XP_006724693.1:p.Thr312=
XM_017029336.1:c.903T>C	XP_016884825.1:p.Thr301=
NM_001399.5:c.945T>C MANE Select	NP_001390.1:p.Thr315=
NM_001005609.2:c.939T>C	NP_001005609.1:p.Thr313=
NM_001005612.3:c.930T>C	NP_001005612.2:p.Thr310=