Canonical Allele Identifier: CA517013818

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033402T>C , CM000685.2:g.70033402T>C	GRCh38
NC_000023.10:g.69253252T>C , CM000685.1:g.69253252T>C	GRCh37
NC_000023.9:g.69169977T>C	NCBI36
NG_009809.1:g.422342T>C
NG_009809.2:g.422336T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001399.5:c.798T>C MANE Select	NP_001390.1:p.Leu266=
ENST00000374552.9:c.798T>C MANE Select	ENSP00000363680.4:p.Leu266=
NM_001005609.1:c.798T>C	NP_001005609.1:p.Leu266=
NM_001005609.2:c.798T>C	NP_001005609.1:p.Leu266=
NM_001005612.2:c.794-5T>C	NP_001005612.2:n.794-5T>C
NM_001005612.3:c.794-5T>C	NP_001005612.2:n.794-5T>C
NM_001399.4:c.798T>C	NP_001390.1:p.Leu266=
ENST00000374552.8:c.798T>C	ENSP00000363680.4:p.Leu266=
ENST00000374553.6:c.798T>C	ENSP00000363681.2:p.Leu266=
ENST00000503592.5:c.402T>C	ENSP00000423037.1:p.Leu134=
ENST00000524573.5:c.794-5T>C	ENSP00000432585.1:n.794-5T>C
ENST00000616899.1:c.402T>C	ENSP00000481963.1:p.Leu134=
XM_006724630.2:c.794-5T>C	XP_006724693.1:n.794-5T>C
XM_011530885.1:c.798T>C	XP_011529187.1:p.Leu266=
XM_011530885.2:c.798T>C	XP_011529187.1:p.Leu266=
XM_017029336.1:c.798T>C	XP_016884825.1:p.Leu266=