Canonical Allele Identifier: CA2299644

Gene: GLB1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33058199C>T , CM000665.2:g.33058199C>T	GRCh38
NC_000003.11:g.33099691C>T , CM000665.1:g.33099691C>T	GRCh37
NC_000003.10:g.33074695C>T	NCBI36
NG_009005.1:g.44004G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000404.4:c.623G>A MANE Select	NP_000395.3:p.Arg208His
ENST00000307363.10:c.623G>A MANE Select	ENSP00000306920.4:p.Arg208His
NM_000404.2:c.623G>A	NP_000395.2:p.Arg208His
NM_000404.3:c.623G>A	NP_000395.2:p.Arg208His
NM_001079811.1:c.533G>A	NP_001073279.1:p.Arg178His
NM_001079811.2:c.533G>A	NP_001073279.1:p.Arg178His
NM_001079811.3:c.533G>A	NP_001073279.2:p.Arg178His
NM_001135602.1:c.341-4650G>A	NP_001129074.1:n.341-4650G>A
NM_001135602.2:c.341-4650G>A	NP_001129074.1:n.341-4650G>A
NM_001135602.3:c.341-4650G>A	NP_001129074.2:n.341-4650G>A
NM_001317040.1:c.767G>A	NP_001303969.1:p.Arg256His
NM_001317040.2:c.767G>A	NP_001303969.2:p.Arg256His
NM_001393580.1:c.623G>A	NP_001380509.1:p.Arg208His
ENST00000307363.9:c.623G>A	ENSP00000306920.4:p.Arg208His
ENST00000307377.12:c.341-4650G>A	ENSP00000305920.8:n.341-4650G>A
ENST00000399402.7:c.533G>A	ENSP00000382333.2:p.Arg178His
ENST00000415454.1:c.146G>A	ENSP00000411813.1:p.Arg49His
ENST00000438227.1:c.*115G>A	ENSP00000401250.1:n.*115G>A
ENST00000440656.1:c.230G>A	ENSP00000411769.1:p.Arg77His
ENST00000446732.5:c.*66G>A	ENSP00000407365.1:n.*66G>A
ENST00000482097.5:n.109-4650G>A
ENST00000485698.5:n.137-4650G>A
ENST00000498537.5:n.133-4650G>A