Canonical Allele Identifier: CA413447996

Gene: EDA

Linked Data

• dbSNP Id: rs2019019492
• MyVariant Identifiers: chrX:g.69176961A>C (hg19) ; chrX:g.69957111A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.69957111A>C , CM000685.2:g.69957111A>C	GRCh38
NC_000023.10:g.69176961A>C , CM000685.1:g.69176961A>C	GRCh37
NC_000023.9:g.69093686A>C	NCBI36
NG_009809.1:g.346051A>C
NG_009809.2:g.346045A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.481A>C MANE Select	ENSP00000363680.4:p.Lys161Gln
ENST00000374548.5:n.723A>C
ENST00000374552.8:c.481A>C	ENSP00000363680.4:p.Lys161Gln
ENST00000374553.6:c.481A>C	ENSP00000363681.2:p.Lys161Gln
ENST00000502251.5:n.774A>C
ENST00000503592.5:c.85A>C	ENSP00000423037.1:p.Lys29Gln
ENST00000524573.5:c.481A>C	ENSP00000432585.1:p.Lys161Gln
ENST00000533317.5:n.1096A>C
ENST00000616899.1:c.85A>C	ENSP00000481963.1:p.Lys29Gln
NM_001005609.1:c.481A>C	NP_001005609.1:p.Lys161Gln
NM_001005612.2:c.481A>C	NP_001005612.2:p.Lys161Gln
NM_001399.4:c.481A>C	NP_001390.1:p.Lys161Gln
XM_006724630.2:c.481A>C	XP_006724693.1:p.Lys161Gln
XM_011530885.1:c.481A>C	XP_011529187.1:p.Lys161Gln
XM_011530885.2:c.481A>C	XP_011529187.1:p.Lys161Gln
XM_017029336.1:c.481A>C	XP_016884825.1:p.Lys161Gln
NM_001399.5:c.481A>C MANE Select	NP_001390.1:p.Lys161Gln
NM_001005609.2:c.481A>C	NP_001005609.1:p.Lys161Gln
NM_001005612.3:c.481A>C	NP_001005612.2:p.Lys161Gln