Canonical Allele Identifier: CA7538033

Gene: DUOX2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45100193G>A , CM000677.2:g.45100193G>A	GRCh38
NC_000015.9:g.45392391G>A , CM000677.1:g.45392391G>A	GRCh37
NC_000015.8:g.43179683G>A	NCBI36
NG_009447.1:g.18969C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001363711.2:c.3041C>T MANE Select	NP_001350640.1:p.Ala1014Val
ENST00000389039.11:c.3041C>T MANE Select	ENSP00000373691.7:p.Ala1014Val
NM_001363711.1:c.3041C>T	NP_001350640.1:p.Ala1014Val
NM_014080.4:c.3041C>T	NP_054799.4:p.Ala1014Val
NM_014080.5:c.3041C>T	NP_054799.4:p.Ala1014Val
ENST00000389039.10:c.3041C>T	ENSP00000373691.6:p.Ala1014Val
ENST00000558383.1:n.5656C>T
ENST00000560797.1:n.221C>T
ENST00000603300.1:c.3041C>T	ENSP00000475084.1:p.Ala1014Val
XM_005254421.2:c.3041C>T	XP_005254478.1:p.Ala1014Val