Canonical Allele Identifier: CA2664926654
Gene: GLB1 HGNC NCBI

Linked Data

gnomAD v4: 3-32997040-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.32997040C>T , CM000665.2:g.32997040C>T GRCh38
NC_000003.11:g.33038532C>T , CM000665.1:g.33038532C>T GRCh37
NC_000003.10:g.33013536C>T NCBI36
NG_009005.1:g.105163G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307363.10:c.*5G>A MANE Select ENSP00000306920.4:n.*5G>A
ENST00000307363.9:c.*5G>A ENSP00000306920.4:n.*5G>A
ENST00000307377.12:c.*5G>A ENSP00000305920.8:n.*5G>A
ENST00000399402.7:c.*5G>A ENSP00000382333.2:n.*5G>A
NM_000404.2:c.*5G>A NP_000395.2:n.*5G>A
NM_000404.3:c.*5G>A NP_000395.2:n.*5G>A
NM_001079811.1:c.*5G>A NP_001073279.1:n.*5G>A
NM_001079811.2:c.*5G>A NP_001073279.1:n.*5G>A
NM_001135602.1:c.*5G>A NP_001129074.1:n.*5G>A
NM_001135602.2:c.*5G>A NP_001129074.1:n.*5G>A
NM_001317040.1:c.*5G>A NP_001303969.1:n.*5G>A
NM_000404.4:c.*5G>A MANE Select NP_000395.3:n.*5G>A
NM_001079811.3:c.*5G>A NP_001073279.2:n.*5G>A
NM_001135602.3:c.*5G>A NP_001129074.2:n.*5G>A
NM_001317040.2:c.*5G>A NP_001303969.2:n.*5G>A
NM_001393580.1:c.1734+17016G>A NP_001380509.1:n.1734+17016G>A