Canonical Allele Identifier: CA413449300

Gene: EDA

Linked Data

• MyVariant Identifiers: chrX:g.69255220A>T (hg19) ; chrX:g.70035370A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70035370A>T , CM000685.2:g.70035370A>T	GRCh38
NC_000023.10:g.69255220A>T , CM000685.1:g.69255220A>T	GRCh37
NC_000023.9:g.69171945A>T	NCBI36
NG_009809.1:g.424310A>T
NG_009809.2:g.424304A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374552.9:c.937A>T MANE Select	ENSP00000363680.4:p.Asn313Tyr
ENST00000374552.8:c.937A>T	ENSP00000363680.4:p.Asn313Tyr
ENST00000374553.6:c.931A>T	ENSP00000363681.2:p.Asn311Tyr
ENST00000524573.5:c.922A>T	ENSP00000432585.1:p.Asn308Tyr
ENST00000616899.1:c.541A>T	ENSP00000481963.1:p.Asn181Tyr
NM_001005609.1:c.931A>T	NP_001005609.1:p.Asn311Tyr
NM_001005612.2:c.922A>T	NP_001005612.2:p.Asn308Tyr
NM_001399.4:c.937A>T	NP_001390.1:p.Asn313Tyr
XM_006724630.2:c.928A>T	XP_006724693.1:p.Asn310Tyr
XM_017029336.1:c.895A>T	XP_016884825.1:p.Asn299Tyr
NM_001399.5:c.937A>T MANE Select	NP_001390.1:p.Asn313Tyr
NM_001005609.2:c.931A>T	NP_001005609.1:p.Asn311Tyr
NM_001005612.3:c.922A>T	NP_001005612.2:p.Asn308Tyr