Canonical Allele Identifier: CA413449016

Gene: EDA

Linked Data

• MyVariant Identifiers: chrX:g.69253362T>C (hg19) ; chrX:g.70033512T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033512T>C , CM000685.2:g.70033512T>C	GRCh38
NC_000023.10:g.69253362T>C , CM000685.1:g.69253362T>C	GRCh37
NC_000023.9:g.69170087T>C	NCBI36
NG_009809.1:g.422452T>C
NG_009809.2:g.422446T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.908T>C MANE Select	ENSP00000363680.4:p.Ile303Thr
ENST00000374552.8:c.908T>C	ENSP00000363680.4:p.Ile303Thr
ENST00000374553.6:c.908T>C	ENSP00000363681.2:p.Ile303Thr
ENST00000524573.5:c.899T>C	ENSP00000432585.1:p.Ile300Thr
ENST00000616899.1:c.512T>C	ENSP00000481963.1:p.Ile171Thr
NM_001005609.1:c.908T>C	NP_001005609.1:p.Ile303Thr
NM_001005612.2:c.899T>C	NP_001005612.2:p.Ile300Thr
NM_001399.4:c.908T>C	NP_001390.1:p.Ile303Thr
XM_006724630.2:c.899T>C	XP_006724693.1:p.Ile300Thr
XM_011530885.1:c.908T>C	XP_011529187.1:p.Ile303Thr
XM_011530885.2:c.908T>C	XP_011529187.1:p.Ile303Thr
XM_017029336.1:c.882+26T>C	XP_016884825.1:n.882+26T>C
NM_001399.5:c.908T>C MANE Select	NP_001390.1:p.Ile303Thr
NM_001005609.2:c.908T>C	NP_001005609.1:p.Ile303Thr
NM_001005612.3:c.899T>C	NP_001005612.2:p.Ile300Thr