Canonical Allele Identifier: CA413449455

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70035392A>C , CM000685.2:g.70035392A>C	GRCh38
NC_000023.10:g.69255242A>C , CM000685.1:g.69255242A>C	GRCh37
NC_000023.9:g.69171967A>C	NCBI36
NG_009809.1:g.424332A>C
NG_009809.2:g.424326A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001399.5:c.959A>C MANE Select	NP_001390.1:p.Tyr320Ser
ENST00000374552.9:c.959A>C MANE Select	ENSP00000363680.4:p.Tyr320Ser
NM_001005609.1:c.953A>C	NP_001005609.1:p.Tyr318Ser
NM_001005609.2:c.953A>C	NP_001005609.1:p.Tyr318Ser
NM_001005612.2:c.944A>C	NP_001005612.2:p.Tyr315Ser
NM_001005612.3:c.944A>C	NP_001005612.2:p.Tyr315Ser
NM_001399.4:c.959A>C	NP_001390.1:p.Tyr320Ser
ENST00000374552.8:c.959A>C	ENSP00000363680.4:p.Tyr320Ser
ENST00000374553.6:c.953A>C	ENSP00000363681.2:p.Tyr318Ser
ENST00000524573.5:c.944A>C	ENSP00000432585.1:p.Tyr315Ser
ENST00000616899.1:c.563A>C	ENSP00000481963.1:p.Tyr188Ser
XM_006724630.2:c.950A>C	XP_006724693.1:p.Tyr317Ser
XM_017029336.1:c.917A>C	XP_016884825.1:p.Tyr306Ser