Canonical Allele Identifier: CA413450503

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70035585G>T , CM000685.2:g.70035585G>T	GRCh38
NC_000023.10:g.69255435G>T , CM000685.1:g.69255435G>T	GRCh37
NC_000023.9:g.69172160G>T	NCBI36
NG_009809.1:g.424525G>T
NG_009809.2:g.424519G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001399.5:c.1152G>T MANE Select	NP_001390.1:p.Arg384Ser
ENST00000374552.9:c.1152G>T MANE Select	ENSP00000363680.4:p.Arg384Ser
NM_001005609.1:c.1146G>T	NP_001005609.1:p.Arg382Ser
NM_001005609.2:c.1146G>T	NP_001005609.1:p.Arg382Ser
NM_001005612.2:c.1137G>T	NP_001005612.2:p.Arg379Ser
NM_001005612.3:c.1137G>T	NP_001005612.2:p.Arg379Ser
NM_001399.4:c.1152G>T	NP_001390.1:p.Arg384Ser
ENST00000374552.8:c.1152G>T	ENSP00000363680.4:p.Arg384Ser
ENST00000374553.6:c.1146G>T	ENSP00000363681.2:p.Arg382Ser
ENST00000524573.5:c.1137G>T	ENSP00000432585.1:p.Arg379Ser
ENST00000616899.1:c.756G>T	ENSP00000481963.1:p.Arg252Ser
XM_006724630.2:c.1143G>T	XP_006724693.1:p.Arg381Ser
XM_017029336.1:c.1110G>T	XP_016884825.1:p.Arg370Ser