Canonical Allele Identifier: CA413448768

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033404C>G , CM000685.2:g.70033404C>G	GRCh38
NC_000023.10:g.69253254C>G , CM000685.1:g.69253254C>G	GRCh37
NC_000023.9:g.69169979C>G	NCBI36
NG_009809.1:g.422344C>G
NG_009809.2:g.422338C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001399.5:c.800C>G MANE Select	NP_001390.1:p.Ser267Ter
ENST00000374552.9:c.800C>G MANE Select	ENSP00000363680.4:p.Ser267Ter
NM_001005609.1:c.800C>G	NP_001005609.1:p.Ser267Ter
NM_001005609.2:c.800C>G	NP_001005609.1:p.Ser267Ter
NM_001005612.2:c.794-3C>G	NP_001005612.2:n.794-3C>G
NM_001005612.3:c.794-3C>G	NP_001005612.2:n.794-3C>G
NM_001399.4:c.800C>G	NP_001390.1:p.Ser267Ter
ENST00000374552.8:c.800C>G	ENSP00000363680.4:p.Ser267Ter
ENST00000374553.6:c.800C>G	ENSP00000363681.2:p.Ser267Ter
ENST00000503592.5:c.404C>G	ENSP00000423037.1:p.Ser135Ter
ENST00000524573.5:c.794-3C>G	ENSP00000432585.1:n.794-3C>G
ENST00000616899.1:c.404C>G	ENSP00000481963.1:p.Ser135Ter
XM_006724630.2:c.794-3C>G	XP_006724693.1:n.794-3C>G
XM_011530885.1:c.800C>G	XP_011529187.1:p.Ser267Ter
XM_011530885.2:c.800C>G	XP_011529187.1:p.Ser267Ter
XM_017029336.1:c.800C>G	XP_016884825.1:p.Ser267Ter