Canonical Allele Identifier: CA413449021

Gene: EDA

Linked Data

• MyVariant Identifiers: chrX:g.69253363C>G (hg19) ; chrX:g.70033513C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033513C>G , CM000685.2:g.70033513C>G	GRCh38
NC_000023.10:g.69253363C>G , CM000685.1:g.69253363C>G	GRCh37
NC_000023.9:g.69170088C>G	NCBI36
NG_009809.1:g.422453C>G
NG_009809.2:g.422447C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.909C>G MANE Select	ENSP00000363680.4:p.Ile303Met
ENST00000374552.8:c.909C>G	ENSP00000363680.4:p.Ile303Met
ENST00000374553.6:c.909C>G	ENSP00000363681.2:p.Ile303Met
ENST00000524573.5:c.900C>G	ENSP00000432585.1:p.Ile300Met
ENST00000616899.1:c.513C>G	ENSP00000481963.1:p.Ile171Met
NM_001005609.1:c.909C>G	NP_001005609.1:p.Ile303Met
NM_001005612.2:c.900C>G	NP_001005612.2:p.Ile300Met
NM_001399.4:c.909C>G	NP_001390.1:p.Ile303Met
XM_006724630.2:c.900C>G	XP_006724693.1:p.Ile300Met
XM_011530885.1:c.909C>G	XP_011529187.1:p.Ile303Met
XM_011530885.2:c.909C>G	XP_011529187.1:p.Ile303Met
XM_017029336.1:c.882+27C>G	XP_016884825.1:n.882+27C>G
NM_001399.5:c.909C>G MANE Select	NP_001390.1:p.Ile303Met
NM_001005609.2:c.909C>G	NP_001005609.1:p.Ile303Met
NM_001005612.3:c.900C>G	NP_001005612.2:p.Ile300Met