Canonical Allele Identifier: CA1046623399

Gene: GLB1

Linked Data

• dbSNP Id: rs1276546723
• gnomAD v3: 3-33068795-T-C
• gnomAD v4: 3-33068795-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33068795T>C , CM000665.2:g.33068795T>C	GRCh38
NC_000003.11:g.33110287T>C , CM000665.1:g.33110287T>C	GRCh37
NC_000003.10:g.33085291T>C	NCBI36
NG_009005.1:g.33408A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.396+25A>G MANE Select	ENSP00000306920.4:n.396+25A>G
ENST00000307363.9:c.396+25A>G	ENSP00000306920.4:n.396+25A>G
ENST00000307377.12:c.246-3238A>G	ENSP00000305920.8:n.246-3238A>G
ENST00000399402.7:c.306+25A>G	ENSP00000382333.2:n.306+25A>G
ENST00000415454.1:c.76-10526A>G	ENSP00000411813.1:n.76-10526A>G
ENST00000438227.1:c.76-3238A>G	ENSP00000401250.1:n.76-3238A>G
ENST00000440656.1:c.3+25A>G	ENSP00000411769.1:n.3+25A>G
ENST00000446732.5:c.156-3238A>G	ENSP00000407365.1:n.156-3238A>G
ENST00000464355.1:n.354+25A>G
ENST00000482097.5:n.109-15246A>G
ENST00000485698.5:n.137-15246A>G
ENST00000498537.5:n.133-15246A>G
NM_000404.2:c.396+25A>G	NP_000395.2:n.396+25A>G
NM_000404.3:c.396+25A>G	NP_000395.2:n.396+25A>G
NM_001079811.1:c.306+25A>G	NP_001073279.1:n.306+25A>G
NM_001079811.2:c.306+25A>G	NP_001073279.1:n.306+25A>G
NM_001135602.1:c.246-3238A>G	NP_001129074.1:n.246-3238A>G
NM_001135602.2:c.246-3238A>G	NP_001129074.1:n.246-3238A>G
NM_001317040.1:c.540+25A>G	NP_001303969.1:n.540+25A>G
NM_000404.4:c.396+25A>G MANE Select	NP_000395.3:n.396+25A>G
NM_001079811.3:c.306+25A>G	NP_001073279.2:n.306+25A>G
NM_001135602.3:c.246-3238A>G	NP_001129074.2:n.246-3238A>G
NM_001317040.2:c.540+25A>G	NP_001303969.2:n.540+25A>G
NM_001393580.1:c.396+25A>G	NP_001380509.1:n.396+25A>G