Canonical Allele Identifier: CA517014781

Gene: EDA

Linked Data

• MyVariant Identifiers: chrX:g.69255222C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70035372C>T , CM000685.2:g.70035372C>T	GRCh38
NC_000023.10:g.69255222C>T , CM000685.1:g.69255222C>T	GRCh37
NC_000023.9:g.69171947C>T	NCBI36
NG_009809.1:g.424312C>T
NG_009809.2:g.424306C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.939C>T MANE Select	ENSP00000363680.4:p.Asn313=
ENST00000374552.8:c.939C>T	ENSP00000363680.4:p.Asn313=
ENST00000374553.6:c.933C>T	ENSP00000363681.2:p.Asn311=
ENST00000524573.5:c.924C>T	ENSP00000432585.1:p.Asn308=
ENST00000616899.1:c.543C>T	ENSP00000481963.1:p.Asn181=
NM_001005609.1:c.933C>T	NP_001005609.1:p.Asn311=
NM_001005612.2:c.924C>T	NP_001005612.2:p.Asn308=
NM_001399.4:c.939C>T	NP_001390.1:p.Asn313=
XM_006724630.2:c.930C>T	XP_006724693.1:p.Asn310=
XM_017029336.1:c.897C>T	XP_016884825.1:p.Asn299=
NM_001399.5:c.939C>T MANE Select	NP_001390.1:p.Asn313=
NM_001005609.2:c.933C>T	NP_001005609.1:p.Asn311=
NM_001005612.3:c.924C>T	NP_001005612.2:p.Asn308=