Canonical Allele Identifier: CA330952728

Gene: EDA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70035478G>T , CM000685.2:g.70035478G>T	GRCh38
NC_000023.10:g.69255328G>T , CM000685.1:g.69255328G>T	GRCh37
NC_000023.9:g.69172053G>T	NCBI36
NG_009809.1:g.424418G>T
NG_009809.2:g.424412G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001399.5:c.1045G>T MANE Select	NP_001390.1:p.Ala349Ser
ENST00000374552.9:c.1045G>T MANE Select	ENSP00000363680.4:p.Ala349Ser
NM_001005609.1:c.1039G>T	NP_001005609.1:p.Ala347Ser
NM_001005609.2:c.1039G>T	NP_001005609.1:p.Ala347Ser
NM_001005612.2:c.1030G>T	NP_001005612.2:p.Ala344Ser
NM_001005612.3:c.1030G>T	NP_001005612.2:p.Ala344Ser
NM_001399.4:c.1045G>T	NP_001390.1:p.Ala349Ser
ENST00000374552.8:c.1045G>T	ENSP00000363680.4:p.Ala349Ser
ENST00000374553.6:c.1039G>T	ENSP00000363681.2:p.Ala347Ser
ENST00000524573.5:c.1030G>T	ENSP00000432585.1:p.Ala344Ser
ENST00000616899.1:c.649G>T	ENSP00000481963.1:p.Ala217Ser
XM_006724630.2:c.1036G>T	XP_006724693.1:p.Ala346Ser
XM_017029336.1:c.1003G>T	XP_016884825.1:p.Ala335Ser