Canonical Allele Identifier: CA413449053

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033521A>C , CM000685.2:g.70033521A>C	GRCh38
NC_000023.10:g.69253371A>C , CM000685.1:g.69253371A>C	GRCh37
NC_000023.9:g.69170096A>C	NCBI36
NG_009809.1:g.422461A>C
NG_009809.2:g.422455A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.917A>C MANE Select	ENSP00000363680.4:p.Gln306Pro
ENST00000374552.8:c.917A>C	ENSP00000363680.4:p.Gln306Pro
ENST00000374553.6:c.917A>C	ENSP00000363681.2:p.Gln306Pro
ENST00000524573.5:c.908A>C	ENSP00000432585.1:p.Gln303Pro
ENST00000616899.1:c.521A>C	ENSP00000481963.1:p.Gln174Pro
NM_001005609.1:c.917A>C	NP_001005609.1:p.Gln306Pro
NM_001005612.2:c.908A>C	NP_001005612.2:p.Gln303Pro
NM_001399.4:c.917A>C	NP_001390.1:p.Gln306Pro
XM_006724630.2:c.908A>C	XP_006724693.1:p.Gln303Pro
XM_011530885.1:c.917A>C	XP_011529187.1:p.Gln306Pro
XM_011530885.2:c.917A>C	XP_011529187.1:p.Gln306Pro
XM_017029336.1:c.882+35A>C	XP_016884825.1:n.882+35A>C
NM_001399.5:c.917A>C MANE Select	NP_001390.1:p.Gln306Pro
NM_001005609.2:c.917A>C	NP_001005609.1:p.Gln306Pro
NM_001005612.3:c.908A>C	NP_001005612.2:p.Gln303Pro