Canonical Allele Identifier: CA351995172
Gene: GLB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33068925C>A , CM000665.2:g.33068925C>A GRCh38
NC_000003.11:g.33110417C>A , CM000665.1:g.33110417C>A GRCh37
NC_000003.10:g.33085421C>A NCBI36
NG_009005.1:g.33278G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307363.10:c.291G>T MANE Select ENSP00000306920.4:p.Gln97His
ENST00000307363.9:c.291G>T ENSP00000306920.4:p.Gln97His
ENST00000307377.12:c.246-3368G>T ENSP00000305920.8:n.246-3368G>T
ENST00000399402.7:c.201G>T ENSP00000382333.2:p.Gln67His
ENST00000415454.1:c.76-10656G>T ENSP00000411813.1:n.76-10656G>T
ENST00000436768.1:c.435G>T ENSP00000387989.1:p.Gln145His
ENST00000438227.1:c.76-3368G>T ENSP00000401250.1:n.76-3368G>T
ENST00000440656.1:c.-103G>T ENSP00000411769.1:n.-103G>T
ENST00000446732.5:c.156-3368G>T ENSP00000407365.1:n.156-3368G>T
ENST00000450835.1:c.201G>T ENSP00000403264.1:p.Gln67His
ENST00000464355.1:n.249G>T
ENST00000482097.5:n.109-15376G>T
ENST00000485698.5:n.137-15376G>T
ENST00000498537.5:n.133-15376G>T
NM_000404.2:c.291G>T NP_000395.2:p.Gln97His
NM_000404.3:c.291G>T NP_000395.2:p.Gln97His
NM_001079811.1:c.201G>T NP_001073279.1:p.Gln67His
NM_001079811.2:c.201G>T NP_001073279.1:p.Gln67His
NM_001135602.1:c.246-3368G>T NP_001129074.1:n.246-3368G>T
NM_001135602.2:c.246-3368G>T NP_001129074.1:n.246-3368G>T
NM_001317040.1:c.435G>T NP_001303969.1:p.Gln145His
NM_000404.4:c.291G>T MANE Select NP_000395.3:p.Gln97His
NM_001079811.3:c.201G>T NP_001073279.2:p.Gln67His
NM_001135602.3:c.246-3368G>T NP_001129074.2:n.246-3368G>T
NM_001317040.2:c.435G>T NP_001303969.2:p.Gln145His
NM_001393580.1:c.291G>T NP_001380509.1:p.Gln97His