Canonical Allele Identifier: CA413450428

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70035566C>T , CM000685.2:g.70035566C>T	GRCh38
NC_000023.10:g.69255416C>T , CM000685.1:g.69255416C>T	GRCh37
NC_000023.9:g.69172141C>T	NCBI36
NG_009809.1:g.424506C>T
NG_009809.2:g.424500C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001399.5:c.1133C>T MANE Select	NP_001390.1:p.Thr378Met
ENST00000374552.9:c.1133C>T MANE Select	ENSP00000363680.4:p.Thr378Met
NM_001005609.1:c.1127C>T	NP_001005609.1:p.Thr376Met
NM_001005609.2:c.1127C>T	NP_001005609.1:p.Thr376Met
NM_001005612.2:c.1118C>T	NP_001005612.2:p.Thr373Met
NM_001005612.3:c.1118C>T	NP_001005612.2:p.Thr373Met
NM_001399.4:c.1133C>T	NP_001390.1:p.Thr378Met
ENST00000374552.8:c.1133C>T	ENSP00000363680.4:p.Thr378Met
ENST00000374553.6:c.1127C>T	ENSP00000363681.2:p.Thr376Met
ENST00000524573.5:c.1118C>T	ENSP00000432585.1:p.Thr373Met
ENST00000616899.1:c.737C>T	ENSP00000481963.1:p.Thr246Met
XM_006724630.2:c.1124C>T	XP_006724693.1:p.Thr375Met
XM_017029336.1:c.1091C>T	XP_016884825.1:p.Thr364Met