Canonical Allele Identifier: CA2693980287
Gene: EDA HGNC NCBI

Linked Data

gnomAD v4: X-70033570-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70033570G>T , CM000685.2:g.70033570G>T GRCh38
NC_000023.10:g.69253420G>T , CM000685.1:g.69253420G>T GRCh37
NC_000023.9:g.69170145G>T NCBI36
NG_009809.1:g.422510G>T
NG_009809.2:g.422504G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374552.9:c.924+42G>T MANE Select ENSP00000363680.4:n.924+42G>T
ENST00000374552.8:c.924+42G>T ENSP00000363680.4:n.924+42G>T
ENST00000374553.6:c.918+48G>T ENSP00000363681.2:n.918+48G>T
ENST00000524573.5:c.909+48G>T ENSP00000432585.1:n.909+48G>T
ENST00000616899.1:c.528+42G>T ENSP00000481963.1:n.528+42G>T
NM_001005609.1:c.918+48G>T NP_001005609.1:n.918+48G>T
NM_001005612.2:c.909+48G>T NP_001005612.2:n.909+48G>T
NM_001399.4:c.924+42G>T NP_001390.1:n.924+42G>T
XM_006724630.2:c.915+42G>T XP_006724693.1:n.915+42G>T
XM_011530885.1:c.918+48G>T XP_011529187.1:n.918+48G>T
XM_011530885.2:c.918+48G>T XP_011529187.1:n.918+48G>T
XM_017029336.1:c.882+84G>T XP_016884825.1:n.882+84G>T
NM_001399.5:c.924+42G>T MANE Select NP_001390.1:n.924+42G>T
NM_001005609.2:c.918+48G>T NP_001005609.1:n.918+48G>T
NM_001005612.3:c.909+48G>T NP_001005612.2:n.909+48G>T