Canonical Allele Identifier: CA413448672

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70030487C>T , CM000685.2:g.70030487C>T	GRCh38
NC_000023.10:g.69250337C>T , CM000685.1:g.69250337C>T	GRCh37
NC_000023.9:g.69167062C>T	NCBI36
NG_009809.1:g.419427C>T
NG_009809.2:g.419421C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001399.5:c.760C>T MANE Select	NP_001390.1:p.Gln254Ter
ENST00000374552.9:c.760C>T MANE Select	ENSP00000363680.4:p.Gln254Ter
NM_001005609.1:c.760C>T	NP_001005609.1:p.Gln254Ter
NM_001005609.2:c.760C>T	NP_001005609.1:p.Gln254Ter
NM_001005612.2:c.760C>T	NP_001005612.2:p.Gln254Ter
NM_001005612.3:c.760C>T	NP_001005612.2:p.Gln254Ter
NM_001399.4:c.760C>T	NP_001390.1:p.Gln254Ter
ENST00000374552.8:c.760C>T	ENSP00000363680.4:p.Gln254Ter
ENST00000374553.6:c.760C>T	ENSP00000363681.2:p.Gln254Ter
ENST00000503592.5:c.364C>T	ENSP00000423037.1:p.Gln122Ter
ENST00000524573.5:c.760C>T	ENSP00000432585.1:p.Gln254Ter
ENST00000616899.1:c.364C>T	ENSP00000481963.1:p.Gln122Ter
XM_006724630.2:c.760C>T	XP_006724693.1:p.Gln254Ter
XM_011530885.1:c.760C>T	XP_011529187.1:p.Gln254Ter
XM_011530885.2:c.760C>T	XP_011529187.1:p.Gln254Ter
XM_017029336.1:c.760C>T	XP_016884825.1:p.Gln254Ter