Canonical Allele Identifier: CA2693977957

Gene: EDA

Linked Data

• gnomAD v4: X-69957144-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.69957144C>T , CM000685.2:g.69957144C>T	GRCh38
NC_000023.10:g.69176994C>T , CM000685.1:g.69176994C>T	GRCh37
NC_000023.9:g.69093719C>T	NCBI36
NG_009809.1:g.346084C>T
NG_009809.2:g.346078C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.502+12C>T MANE Select	ENSP00000363680.4:n.502+12C>T
ENST00000374548.5:n.756C>T
ENST00000374552.8:c.502+12C>T	ENSP00000363680.4:n.502+12C>T
ENST00000374553.6:c.502+12C>T	ENSP00000363681.2:n.502+12C>T
ENST00000502251.5:n.807C>T
ENST00000503592.5:c.106+12C>T	ENSP00000423037.1:n.106+12C>T
ENST00000524573.5:c.502+12C>T	ENSP00000432585.1:n.502+12C>T
ENST00000533317.5:n.1129C>T
ENST00000616899.1:c.106+12C>T	ENSP00000481963.1:n.106+12C>T
NM_001005609.1:c.502+12C>T	NP_001005609.1:n.502+12C>T
NM_001005612.2:c.502+12C>T	NP_001005612.2:n.502+12C>T
NM_001399.4:c.502+12C>T	NP_001390.1:n.502+12C>T
XM_006724630.2:c.502+12C>T	XP_006724693.1:n.502+12C>T
XM_011530885.1:c.502+12C>T	XP_011529187.1:n.502+12C>T
XM_011530885.2:c.502+12C>T	XP_011529187.1:n.502+12C>T
XM_017029336.1:c.502+12C>T	XP_016884825.1:n.502+12C>T
NM_001399.5:c.502+12C>T MANE Select	NP_001390.1:n.502+12C>T
NM_001005609.2:c.502+12C>T	NP_001005609.1:n.502+12C>T
NM_001005612.3:c.502+12C>T	NP_001005612.2:n.502+12C>T