Canonical Allele Identifier: CA413449351

Gene: EDA

Linked Data

• MyVariant Identifiers: chrX:g.69255227C>G (hg19) ; chrX:g.70035377C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70035377C>G , CM000685.2:g.70035377C>G	GRCh38
NC_000023.10:g.69255227C>G , CM000685.1:g.69255227C>G	GRCh37
NC_000023.9:g.69171952C>G	NCBI36
NG_009809.1:g.424317C>G
NG_009809.2:g.424311C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.944C>G MANE Select	ENSP00000363680.4:p.Thr315Ser
ENST00000374552.8:c.944C>G	ENSP00000363680.4:p.Thr315Ser
ENST00000374553.6:c.938C>G	ENSP00000363681.2:p.Thr313Ser
ENST00000524573.5:c.929C>G	ENSP00000432585.1:p.Thr310Ser
ENST00000616899.1:c.548C>G	ENSP00000481963.1:p.Thr183Ser
NM_001005609.1:c.938C>G	NP_001005609.1:p.Thr313Ser
NM_001005612.2:c.929C>G	NP_001005612.2:p.Thr310Ser
NM_001399.4:c.944C>G	NP_001390.1:p.Thr315Ser
XM_006724630.2:c.935C>G	XP_006724693.1:p.Thr312Ser
XM_017029336.1:c.902C>G	XP_016884825.1:p.Thr301Ser
NM_001399.5:c.944C>G MANE Select	NP_001390.1:p.Thr315Ser
NM_001005609.2:c.938C>G	NP_001005609.1:p.Thr313Ser
NM_001005612.3:c.929C>G	NP_001005612.2:p.Thr310Ser