Canonical Allele Identifier: CA3065059413
Community Standard Title: NM_001399.5(EDA):c.809T= (p.Val270=)
Gene: EDA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70033413T= , CM000685.2:g.70033413T= GRCh38
NC_000023.10:g.69253263T= , CM000685.1:g.69253263T= GRCh37
NC_000023.9:g.69169988T= NCBI36
NG_009809.1:g.422353T=
NG_009809.2:g.422347T=

Transcript Alleles

HGVS Amino-acid Change
NM_001399.5:c.809T= MANE Select NP_001390.1:p.Val270=
ENST00000374552.9:c.809T= MANE Select ENSP00000363680.4:p.Val270=
NM_001005609.1:c.809T= NP_001005609.1:p.Val270=
NM_001005609.2:c.809T= NP_001005609.1:p.Val270=
NM_001005612.2:c.800T= NP_001005612.2:p.Val267=
NM_001005612.3:c.800T= NP_001005612.2:p.Val267=
NM_001399.4:c.809T= NP_001390.1:p.Val270=
ENST00000374552.8:c.809T= ENSP00000363680.4:p.Val270=
ENST00000374553.6:c.809T= ENSP00000363681.2:p.Val270=
ENST00000524573.5:c.800T= ENSP00000432585.1:p.Val267=
ENST00000616899.1:c.413T= ENSP00000481963.1:p.Val138=
XM_006724630.2:c.800T= XP_006724693.1:p.Val267=
XM_011530885.1:c.809T= XP_011529187.1:p.Val270=
XM_011530885.2:c.809T= XP_011529187.1:p.Val270=
XM_017029336.1:c.809T= XP_016884825.1:p.Val270=