Canonical Allele Identifier: CA413448546
Community Standard Title: NM_001399.5(EDA):c.707-2A>T
Gene: EDA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70029502A>T , CM000685.2:g.70029502A>T GRCh38
NC_000023.10:g.69249352A>T , CM000685.1:g.69249352A>T GRCh37
NC_000023.9:g.69166077A>T NCBI36
NG_009809.1:g.418442A>T
NG_009809.2:g.418436A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001399.5:c.707-2A>T MANE Select NP_001390.1:n.707-2A>T
ENST00000374552.9:c.707-2A>T MANE Select ENSP00000363680.4:n.707-2A>T
NM_001005609.1:c.707-2A>T NP_001005609.1:n.707-2A>T
NM_001005609.2:c.707-2A>T NP_001005609.1:n.707-2A>T
NM_001005612.2:c.707-2A>T NP_001005612.2:n.707-2A>T
NM_001005612.3:c.707-2A>T NP_001005612.2:n.707-2A>T
NM_001399.4:c.707-2A>T NP_001390.1:n.707-2A>T
ENST00000374552.8:c.707-2A>T ENSP00000363680.4:n.707-2A>T
ENST00000374553.6:c.707-2A>T ENSP00000363681.2:n.707-2A>T
ENST00000503592.5:c.311-2A>T ENSP00000423037.1:n.311-2A>T
ENST00000524573.5:c.707-2A>T ENSP00000432585.1:n.707-2A>T
ENST00000616899.1:c.311-2A>T ENSP00000481963.1:n.311-2A>T
XM_006724630.2:c.707-2A>T XP_006724693.1:n.707-2A>T
XM_011530885.1:c.707-2A>T XP_011529187.1:n.707-2A>T
XM_011530885.2:c.707-2A>T XP_011529187.1:n.707-2A>T
XM_017029336.1:c.707-2A>T XP_016884825.1:n.707-2A>T