Canonical Allele Identifier: CA413450437

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70035569T>C , CM000685.2:g.70035569T>C	GRCh38
NC_000023.10:g.69255419T>C , CM000685.1:g.69255419T>C	GRCh37
NC_000023.9:g.69172144T>C	NCBI36
NG_009809.1:g.424509T>C
NG_009809.2:g.424503T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001399.5:c.1136T>C MANE Select	NP_001390.1:p.Phe379Ser
ENST00000374552.9:c.1136T>C MANE Select	ENSP00000363680.4:p.Phe379Ser
NM_001005609.1:c.1130T>C	NP_001005609.1:p.Phe377Ser
NM_001005609.2:c.1130T>C	NP_001005609.1:p.Phe377Ser
NM_001005612.2:c.1121T>C	NP_001005612.2:p.Phe374Ser
NM_001005612.3:c.1121T>C	NP_001005612.2:p.Phe374Ser
NM_001399.4:c.1136T>C	NP_001390.1:p.Phe379Ser
ENST00000374552.8:c.1136T>C	ENSP00000363680.4:p.Phe379Ser
ENST00000374553.6:c.1130T>C	ENSP00000363681.2:p.Phe377Ser
ENST00000524573.5:c.1121T>C	ENSP00000432585.1:p.Phe374Ser
ENST00000616899.1:c.740T>C	ENSP00000481963.1:p.Phe247Ser
XM_006724630.2:c.1127T>C	XP_006724693.1:p.Phe376Ser
XM_017029336.1:c.1094T>C	XP_016884825.1:p.Phe365Ser