Canonical Allele Identifier: CA413449050

Gene: EDA

Linked Data

• ClinVar Variation Id: 1457985
• ClinVar RCV Id: RCV001956142
• dbSNP Id: rs2147516557
• MyVariant Identifiers: chrX:g.69253370C>T (hg19) ; chrX:g.70033520C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033520C>T , CM000685.2:g.70033520C>T	GRCh38
NC_000023.10:g.69253370C>T , CM000685.1:g.69253370C>T	GRCh37
NC_000023.9:g.69170095C>T	NCBI36
NG_009809.1:g.422460C>T
NG_009809.2:g.422454C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.916C>T MANE Select	ENSP00000363680.4:p.Gln306Ter
ENST00000374552.8:c.916C>T	ENSP00000363680.4:p.Gln306Ter
ENST00000374553.6:c.916C>T	ENSP00000363681.2:p.Gln306Ter
ENST00000524573.5:c.907C>T	ENSP00000432585.1:p.Gln303Ter
ENST00000616899.1:c.520C>T	ENSP00000481963.1:p.Gln174Ter
NM_001005609.1:c.916C>T	NP_001005609.1:p.Gln306Ter
NM_001005612.2:c.907C>T	NP_001005612.2:p.Gln303Ter
NM_001399.4:c.916C>T	NP_001390.1:p.Gln306Ter
XM_006724630.2:c.907C>T	XP_006724693.1:p.Gln303Ter
XM_011530885.1:c.916C>T	XP_011529187.1:p.Gln306Ter
XM_011530885.2:c.916C>T	XP_011529187.1:p.Gln306Ter
XM_017029336.1:c.882+34C>T	XP_016884825.1:n.882+34C>T
NM_001399.5:c.916C>T MANE Select	NP_001390.1:p.Gln306Ter
NM_001005609.2:c.916C>T	NP_001005609.1:p.Gln306Ter
NM_001005612.3:c.907C>T	NP_001005612.2:p.Gln303Ter