Canonical Allele Identifier: CA413449303

Gene: EDA

Linked Data

• MyVariant Identifiers: chrX:g.69255221A>C (hg19) ; chrX:g.70035371A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70035371A>C , CM000685.2:g.70035371A>C	GRCh38
NC_000023.10:g.69255221A>C , CM000685.1:g.69255221A>C	GRCh37
NC_000023.9:g.69171946A>C	NCBI36
NG_009809.1:g.424311A>C
NG_009809.2:g.424305A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.938A>C MANE Select	ENSP00000363680.4:p.Asn313Thr
ENST00000374552.8:c.938A>C	ENSP00000363680.4:p.Asn313Thr
ENST00000374553.6:c.932A>C	ENSP00000363681.2:p.Asn311Thr
ENST00000524573.5:c.923A>C	ENSP00000432585.1:p.Asn308Thr
ENST00000616899.1:c.542A>C	ENSP00000481963.1:p.Asn181Thr
NM_001005609.1:c.932A>C	NP_001005609.1:p.Asn311Thr
NM_001005612.2:c.923A>C	NP_001005612.2:p.Asn308Thr
NM_001399.4:c.938A>C	NP_001390.1:p.Asn313Thr
XM_006724630.2:c.929A>C	XP_006724693.1:p.Asn310Thr
XM_017029336.1:c.896A>C	XP_016884825.1:p.Asn299Thr
NM_001399.5:c.938A>C MANE Select	NP_001390.1:p.Asn313Thr
NM_001005609.2:c.932A>C	NP_001005609.1:p.Asn311Thr
NM_001005612.3:c.923A>C	NP_001005612.2:p.Asn308Thr