Canonical Allele Identifier: CA432959393
Community Standard Title: NM_000404.4(GLB1):c.955+5G>A
Gene: GLB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33051753C>T , CM000665.2:g.33051753C>T GRCh38
NC_000003.11:g.33093245C>T , CM000665.1:g.33093245C>T GRCh37
NC_000003.10:g.33068249C>T NCBI36
NG_009005.1:g.50450G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000404.4:c.955+5G>A MANE Select NP_000395.3:n.955+5G>A
ENST00000307363.10:c.955+5G>A MANE Select ENSP00000306920.4:n.955+5G>A
NM_000404.2:c.955+5G>A NP_000395.2:n.955+5G>A
NM_000404.3:c.955+5G>A NP_000395.2:n.955+5G>A
NM_001079811.1:c.865+5G>A NP_001073279.1:n.865+5G>A
NM_001079811.2:c.865+5G>A NP_001073279.1:n.865+5G>A
NM_001079811.3:c.865+5G>A NP_001073279.2:n.865+5G>A
NM_001135602.1:c.562+5G>A NP_001129074.1:n.562+5G>A
NM_001135602.2:c.562+5G>A NP_001129074.1:n.562+5G>A
NM_001135602.3:c.562+5G>A NP_001129074.2:n.562+5G>A
NM_001317040.1:c.1099+5G>A NP_001303969.1:n.1099+5G>A
NM_001317040.2:c.1099+5G>A NP_001303969.2:n.1099+5G>A
NM_001393580.1:c.955+5G>A NP_001380509.1:n.955+5G>A
ENST00000307363.9:c.955+5G>A ENSP00000306920.4:n.955+5G>A
ENST00000307377.12:c.562+5G>A ENSP00000305920.8:n.562+5G>A
ENST00000399402.7:c.865+5G>A ENSP00000382333.2:n.865+5G>A
ENST00000415454.1:c.478+5G>A ENSP00000411813.1:n.478+5G>A
ENST00000482097.5:n.330+5G>A
ENST00000485698.5:n.358+5G>A
ENST00000498537.5:n.481+5G>A