Canonical Allele Identifier: CA413448903

Gene: EDA

Linked Data

• MyVariant Identifiers: chrX:g.69253315T>G (hg19) ; chrX:g.70033465T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033465T>G , CM000685.2:g.70033465T>G	GRCh38
NC_000023.10:g.69253315T>G , CM000685.1:g.69253315T>G	GRCh37
NC_000023.9:g.69170040T>G	NCBI36
NG_009809.1:g.422405T>G
NG_009809.2:g.422399T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.861T>G MANE Select	ENSP00000363680.4:p.His287Gln
ENST00000374552.8:c.861T>G	ENSP00000363680.4:p.His287Gln
ENST00000374553.6:c.861T>G	ENSP00000363681.2:p.His287Gln
ENST00000524573.5:c.852T>G	ENSP00000432585.1:p.His284Gln
ENST00000616899.1:c.465T>G	ENSP00000481963.1:p.His155Gln
NM_001005609.1:c.861T>G	NP_001005609.1:p.His287Gln
NM_001005612.2:c.852T>G	NP_001005612.2:p.His284Gln
NM_001399.4:c.861T>G	NP_001390.1:p.His287Gln
XM_006724630.2:c.852T>G	XP_006724693.1:p.His284Gln
XM_011530885.1:c.861T>G	XP_011529187.1:p.His287Gln
XM_011530885.2:c.861T>G	XP_011529187.1:p.His287Gln
XM_017029336.1:c.861T>G	XP_016884825.1:p.His287Gln
NM_001399.5:c.861T>G MANE Select	NP_001390.1:p.His287Gln
NM_001005609.2:c.861T>G	NP_001005609.1:p.His287Gln
NM_001005612.3:c.852T>G	NP_001005612.2:p.His284Gln