Canonical Allele Identifier: CA413450586

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70035607T>C , CM000685.2:g.70035607T>C	GRCh38
NC_000023.10:g.69255457T>C , CM000685.1:g.69255457T>C	GRCh37
NC_000023.9:g.69172182T>C	NCBI36
NG_009809.1:g.424547T>C
NG_009809.2:g.424541T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001399.5:c.1174T>C MANE Select	NP_001390.1:p.Ter392Gln
ENST00000374552.9:c.1174T>C MANE Select	ENSP00000363680.4:p.Ter392Gln
NM_001005609.1:c.1168T>C	NP_001005609.1:p.Ter390Gln
NM_001005609.2:c.1168T>C	NP_001005609.1:p.Ter390Gln
NM_001005612.2:c.1159T>C	NP_001005612.2:p.Ter387Gln
NM_001005612.3:c.1159T>C	NP_001005612.2:p.Ter387Gln
NM_001399.4:c.1174T>C	NP_001390.1:p.Ter392Gln
ENST00000374552.8:c.1174T>C	ENSP00000363680.4:p.Ter392Gln
ENST00000374553.6:c.1168T>C	ENSP00000363681.2:p.Ter390Gln
ENST00000524573.5:c.1159T>C	ENSP00000432585.1:p.Ter387Gln
ENST00000616899.1:c.778T>C	ENSP00000481963.1:p.Ter260Gln
XM_006724630.2:c.1165T>C	XP_006724693.1:p.Ter389Gln
XM_017029336.1:c.1132T>C	XP_016884825.1:p.Ter378Gln