Canonical Allele Identifier: CA413448844

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033440T>G , CM000685.2:g.70033440T>G	GRCh38
NC_000023.10:g.69253290T>G , CM000685.1:g.69253290T>G	GRCh37
NC_000023.9:g.69170015T>G	NCBI36
NG_009809.1:g.422380T>G
NG_009809.2:g.422374T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001399.5:c.836T>G MANE Select	NP_001390.1:p.Met279Arg
ENST00000374552.9:c.836T>G MANE Select	ENSP00000363680.4:p.Met279Arg
NM_001005609.1:c.836T>G	NP_001005609.1:p.Met279Arg
NM_001005609.2:c.836T>G	NP_001005609.1:p.Met279Arg
NM_001005612.2:c.827T>G	NP_001005612.2:p.Met276Arg
NM_001005612.3:c.827T>G	NP_001005612.2:p.Met276Arg
NM_001399.4:c.836T>G	NP_001390.1:p.Met279Arg
ENST00000374552.8:c.836T>G	ENSP00000363680.4:p.Met279Arg
ENST00000374553.6:c.836T>G	ENSP00000363681.2:p.Met279Arg
ENST00000524573.5:c.827T>G	ENSP00000432585.1:p.Met276Arg
ENST00000616899.1:c.440T>G	ENSP00000481963.1:p.Met147Arg
XM_006724630.2:c.827T>G	XP_006724693.1:p.Met276Arg
XM_011530885.1:c.836T>G	XP_011529187.1:p.Met279Arg
XM_011530885.2:c.836T>G	XP_011529187.1:p.Met279Arg
XM_017029336.1:c.836T>G	XP_016884825.1:p.Met279Arg