Canonical Allele Identifier: CA413448371

Gene: EDA

Linked Data

• gnomAD v4: X-70027953-T-C
• MyVariant Identifiers: chrX:g.69247803T>C (hg19) ; chrX:g.70027953T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70027953T>C , CM000685.2:g.70027953T>C	GRCh38
NC_000023.10:g.69247803T>C , CM000685.1:g.69247803T>C	GRCh37
NC_000023.9:g.69164528T>C	NCBI36
NG_009809.1:g.416893T>C
NG_009809.2:g.416887T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.623T>C MANE Select	ENSP00000363680.4:p.Ile208Thr
ENST00000374552.8:c.623T>C	ENSP00000363680.4:p.Ile208Thr
ENST00000374553.6:c.623T>C	ENSP00000363681.2:p.Ile208Thr
ENST00000503592.5:c.227T>C	ENSP00000423037.1:p.Ile76Thr
ENST00000524573.5:c.623T>C	ENSP00000432585.1:p.Ile208Thr
ENST00000616899.1:c.227T>C	ENSP00000481963.1:p.Ile76Thr
NM_001005609.1:c.623T>C	NP_001005609.1:p.Ile208Thr
NM_001005612.2:c.623T>C	NP_001005612.2:p.Ile208Thr
NM_001399.4:c.623T>C	NP_001390.1:p.Ile208Thr
XM_006724630.2:c.623T>C	XP_006724693.1:p.Ile208Thr
XM_011530885.1:c.623T>C	XP_011529187.1:p.Ile208Thr
XM_011530885.2:c.623T>C	XP_011529187.1:p.Ile208Thr
XM_017029336.1:c.623T>C	XP_016884825.1:p.Ile208Thr
NM_001399.5:c.623T>C MANE Select	NP_001390.1:p.Ile208Thr
NM_001005609.2:c.623T>C	NP_001005609.1:p.Ile208Thr
NM_001005612.3:c.623T>C	NP_001005612.2:p.Ile208Thr