Canonical Allele Identifier: CA344668081

Gene: BROX

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.222731433T>G , CM000663.2:g.222731433T>G	GRCh38
NC_000001.10:g.222904775T>G , CM000663.1:g.222904775T>G	GRCh37
NC_000001.9:g.220971398T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340934.10:c.1066T>G MANE Select	ENSP00000343742.5:p.Phe356Val
ENST00000340934.9:c.1066T>G	ENSP00000343742.5:p.Phe356Val
ENST00000537020.5:c.990-1195T>G	ENSP00000440041.1:n.990-1195T>G
ENST00000539697.5:c.970T>G	ENSP00000441080.1:p.Phe324Val
ENST00000612948.4:c.970T>G	ENSP00000478496.1:p.Phe324Val
NM_001288579.1:c.970T>G	NP_001275508.1:p.Phe324Val
NM_001288580.1:c.970T>G	NP_001275509.1:p.Phe324Val
NM_001288581.1:c.990-1195T>G	NP_001275510.1:n.990-1195T>G
NM_144695.3:c.1066T>G	NP_653296.2:p.Phe356Val
XM_005273065.2:c.1066T>G	XP_005273122.2:p.Phe356Val
XM_005273069.3:c.901T>G	XP_005273126.1:p.Phe301Val
XM_006711173.2:c.1117T>G	XP_006711236.1:p.Phe373Val
XM_011509212.1:c.1129T>G	XP_011507514.1:p.Phe377Val
XM_011509213.1:c.1108T>G	XP_011507515.1:p.Phe370Val
XM_011509214.1:c.1066T>G	XP_011507516.1:p.Phe356Val
XM_005273065.3:c.1066T>G	XP_005273122.2:p.Phe356Val
XM_005273069.5:c.901T>G	XP_005273126.1:p.Phe301Val
XM_006711173.4:c.1117T>G	XP_006711236.1:p.Phe373Val
XM_011509212.3:c.1129T>G	XP_011507514.1:p.Phe377Val
XM_011509213.3:c.1108T>G	XP_011507515.1:p.Phe370Val
XM_011509214.3:c.1066T>G	XP_011507516.1:p.Phe356Val
XM_017000374.2:c.1066T>G	XP_016855863.1:p.Phe356Val
XM_017000375.2:c.1012T>G	XP_016855864.1:p.Phe338Val
XM_017000376.2:c.901T>G	XP_016855865.1:p.Phe301Val
XR_001736986.1:n.1092T>G
NM_144695.4:c.1066T>G MANE Select	NP_653296.2:p.Phe356Val
NM_001375661.1:c.1066T>G	NP_001362590.1:p.Phe356Val
NM_001375758.1:c.898T>G	NP_001362687.1:p.Phe300Val
NM_001288579.2:c.970T>G	NP_001275508.1:p.Phe324Val
NM_001288580.2:c.970T>G	NP_001275509.1:p.Phe324Val
NM_001288581.2:c.990-1195T>G	NP_001275510.1:n.990-1195T>G