Canonical Allele Identifier: CA517014299

Gene: EDA

Linked Data

• MyVariant Identifiers: chrX:g.69253369T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70033519T>C , CM000685.2:g.70033519T>C	GRCh38
NC_000023.10:g.69253369T>C , CM000685.1:g.69253369T>C	GRCh37
NC_000023.9:g.69170094T>C	NCBI36
NG_009809.1:g.422459T>C
NG_009809.2:g.422453T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374552.9:c.915T>C MANE Select	ENSP00000363680.4:p.Ser305=
ENST00000374552.8:c.915T>C	ENSP00000363680.4:p.Ser305=
ENST00000374553.6:c.915T>C	ENSP00000363681.2:p.Ser305=
ENST00000524573.5:c.906T>C	ENSP00000432585.1:p.Ser302=
ENST00000616899.1:c.519T>C	ENSP00000481963.1:p.Ser173=
NM_001005609.1:c.915T>C	NP_001005609.1:p.Ser305=
NM_001005612.2:c.906T>C	NP_001005612.2:p.Ser302=
NM_001399.4:c.915T>C	NP_001390.1:p.Ser305=
XM_006724630.2:c.906T>C	XP_006724693.1:p.Ser302=
XM_011530885.1:c.915T>C	XP_011529187.1:p.Ser305=
XM_011530885.2:c.915T>C	XP_011529187.1:p.Ser305=
XM_017029336.1:c.882+33T>C	XP_016884825.1:n.882+33T>C
NM_001399.5:c.915T>C MANE Select	NP_001390.1:p.Ser305=
NM_001005609.2:c.915T>C	NP_001005609.1:p.Ser305=
NM_001005612.3:c.906T>C	NP_001005612.2:p.Ser302=