Canonical Allele Identifier: CA2579632552

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033540C>T , CM000685.2:g.70033540C>T	GRCh38
NC_000023.10:g.69253390C>T , CM000685.1:g.69253390C>T	GRCh37
NC_000023.9:g.69170115C>T	NCBI36
NG_009809.1:g.422480C>T
NG_009809.2:g.422474C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.924+12C>T MANE Select	ENSP00000363680.4:n.924+12C>T
ENST00000374552.8:c.924+12C>T	ENSP00000363680.4:n.924+12C>T
ENST00000374553.6:c.918+18C>T	ENSP00000363681.2:n.918+18C>T
ENST00000524573.5:c.909+18C>T	ENSP00000432585.1:n.909+18C>T
ENST00000616899.1:c.528+12C>T	ENSP00000481963.1:n.528+12C>T
NM_001005609.1:c.918+18C>T	NP_001005609.1:n.918+18C>T
NM_001005612.2:c.909+18C>T	NP_001005612.2:n.909+18C>T
NM_001399.4:c.924+12C>T	NP_001390.1:n.924+12C>T
XM_006724630.2:c.915+12C>T	XP_006724693.1:n.915+12C>T
XM_011530885.1:c.918+18C>T	XP_011529187.1:n.918+18C>T
XM_011530885.2:c.918+18C>T	XP_011529187.1:n.918+18C>T
XM_017029336.1:c.882+54C>T	XP_016884825.1:n.882+54C>T
NM_001399.5:c.924+12C>T MANE Select	NP_001390.1:n.924+12C>T
NM_001005609.2:c.918+18C>T	NP_001005609.1:n.918+18C>T
NM_001005612.3:c.909+18C>T	NP_001005612.2:n.909+18C>T