Canonical Allele Identifier: CA413449353

Gene: EDA

Linked Data

• gnomAD v4: X-70035377-C-T
• MyVariant Identifiers: chrX:g.69255227C>T (hg19) ; chrX:g.70035377C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70035377C>T , CM000685.2:g.70035377C>T	GRCh38
NC_000023.10:g.69255227C>T , CM000685.1:g.69255227C>T	GRCh37
NC_000023.9:g.69171952C>T	NCBI36
NG_009809.1:g.424317C>T
NG_009809.2:g.424311C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.944C>T MANE Select	ENSP00000363680.4:p.Thr315Ile
ENST00000374552.8:c.944C>T	ENSP00000363680.4:p.Thr315Ile
ENST00000374553.6:c.938C>T	ENSP00000363681.2:p.Thr313Ile
ENST00000524573.5:c.929C>T	ENSP00000432585.1:p.Thr310Ile
ENST00000616899.1:c.548C>T	ENSP00000481963.1:p.Thr183Ile
NM_001005609.1:c.938C>T	NP_001005609.1:p.Thr313Ile
NM_001005612.2:c.929C>T	NP_001005612.2:p.Thr310Ile
NM_001399.4:c.944C>T	NP_001390.1:p.Thr315Ile
XM_006724630.2:c.935C>T	XP_006724693.1:p.Thr312Ile
XM_017029336.1:c.902C>T	XP_016884825.1:p.Thr301Ile
NM_001399.5:c.944C>T MANE Select	NP_001390.1:p.Thr315Ile
NM_001005609.2:c.938C>T	NP_001005609.1:p.Thr313Ile
NM_001005612.3:c.929C>T	NP_001005612.2:p.Thr310Ile