Canonical Allele Identifier: CA413447604
Gene: EDA HGNC NCBI

Linked Data

gnomAD v4: X-69616663-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.69616663G>C , CM000685.2:g.69616663G>C GRCh38
NC_000023.10:g.68836507G>C , CM000685.1:g.68836507G>C GRCh37
NC_000023.9:g.68753232G>C NCBI36
NG_009809.1:g.5597G>C
NG_009809.2:g.5597G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374552.9:c.355G>C MANE Select ENSP00000363680.4:p.Gly119Arg
ENST00000338901.4:c.355G>C ENSP00000340611.4:p.Gly119Arg
ENST00000374548.5:n.597G>C
ENST00000374552.8:c.355G>C ENSP00000363680.4:p.Gly119Arg
ENST00000374553.6:c.355G>C ENSP00000363681.2:p.Gly119Arg
ENST00000502251.5:n.597G>C
ENST00000524573.5:c.355G>C ENSP00000432585.1:p.Gly119Arg
ENST00000525810.5:c.355G>C ENSP00000434195.1:p.Gly119Arg
ENST00000527388.5:c.355G>C ENSP00000434861.1:p.Gly119Arg
ENST00000533317.5:n.597G>C
NM_001005609.1:c.355G>C NP_001005609.1:p.Gly119Arg
NM_001005610.3:c.355G>C NP_001005610.2:p.Gly119Arg
NM_001005612.2:c.355G>C NP_001005612.2:p.Gly119Arg
NM_001005613.3:c.355G>C NP_001005613.1:p.Gly119Arg
NM_001399.4:c.355G>C NP_001390.1:p.Gly119Arg
XM_006724630.2:c.355G>C XP_006724693.1:p.Gly119Arg
XM_011530885.1:c.355G>C XP_011529187.1:p.Gly119Arg
XM_011530885.2:c.355G>C XP_011529187.1:p.Gly119Arg
XM_017029336.1:c.355G>C XP_016884825.1:p.Gly119Arg
XM_017029337.1:c.355G>C XP_016884826.1:p.Gly119Arg
XR_001755660.1:n.578G>C
NM_001399.5:c.355G>C MANE Select NP_001390.1:p.Gly119Arg
NM_001005609.2:c.355G>C NP_001005609.1:p.Gly119Arg
NM_001005610.4:c.355G>C NP_001005610.2:p.Gly119Arg
NM_001005612.3:c.355G>C NP_001005612.2:p.Gly119Arg
NM_001005613.4:c.355G>C NP_001005613.1:p.Gly119Arg