Canonical Allele Identifier: CA432959588
Community Standard Title: NM_000404.4(GLB1):c.734-6T>A
Gene: GLB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33053555A>T , CM000665.2:g.33053555A>T GRCh38
NC_000003.11:g.33095047A>T , CM000665.1:g.33095047A>T GRCh37
NC_000003.10:g.33070051A>T NCBI36
NG_009005.1:g.48648T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000404.4:c.734-6T>A MANE Select NP_000395.3:n.734-6T>A
ENST00000307363.10:c.734-6T>A MANE Select ENSP00000306920.4:n.734-6T>A
NM_000404.2:c.734-6T>A NP_000395.2:n.734-6T>A
NM_000404.3:c.734-6T>A NP_000395.2:n.734-6T>A
NM_001079811.1:c.644-6T>A NP_001073279.1:n.644-6T>A
NM_001079811.2:c.644-6T>A NP_001073279.1:n.644-6T>A
NM_001079811.3:c.644-6T>A NP_001073279.2:n.644-6T>A
NM_001135602.1:c.341-6T>A NP_001129074.1:n.341-6T>A
NM_001135602.2:c.341-6T>A NP_001129074.1:n.341-6T>A
NM_001135602.3:c.341-6T>A NP_001129074.2:n.341-6T>A
NM_001317040.1:c.878-6T>A NP_001303969.1:n.878-6T>A
NM_001317040.2:c.878-6T>A NP_001303969.2:n.878-6T>A
NM_001393580.1:c.734-6T>A NP_001380509.1:n.734-6T>A
ENST00000307363.9:c.734-6T>A ENSP00000306920.4:n.734-6T>A
ENST00000307377.12:c.341-6T>A ENSP00000305920.8:n.341-6T>A
ENST00000399402.7:c.644-6T>A ENSP00000382333.2:n.644-6T>A
ENST00000415454.1:c.257-6T>A ENSP00000411813.1:n.257-6T>A
ENST00000438227.1:c.*226-6T>A ENSP00000401250.1:n.*226-6T>A
ENST00000446732.5:c.*177-6T>A ENSP00000407365.1:n.*177-6T>A
ENST00000482097.5:n.109-6T>A
ENST00000485698.5:n.137-6T>A
ENST00000498537.5:n.133-6T>A