Canonical Allele Identifier: CA432960325
Gene: GLB1 HGNC NCBI

Linked Data

dbSNP Id: rs1696344160
MyVariant Identifiers: chr3:g.33038723G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.32997231G>A , CM000665.2:g.32997231G>A GRCh38
NC_000003.11:g.33038723G>A , CM000665.1:g.33038723G>A GRCh37
NC_000003.10:g.33013727G>A NCBI36
NG_009005.1:g.104972C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307363.10:c.1848C>T MANE Select ENSP00000306920.4:p.Ile616=
ENST00000307363.9:c.1848C>T ENSP00000306920.4:p.Ile616=
ENST00000307377.12:c.1455C>T ENSP00000305920.8:p.Ile485=
ENST00000399402.7:c.1758C>T ENSP00000382333.2:p.Ile586=
NM_000404.2:c.1848C>T NP_000395.2:p.Ile616=
NM_000404.3:c.1848C>T NP_000395.2:p.Ile616=
NM_001079811.1:c.1758C>T NP_001073279.1:p.Ile586=
NM_001079811.2:c.1758C>T NP_001073279.1:p.Ile586=
NM_001135602.1:c.1455C>T NP_001129074.1:p.Ile485=
NM_001135602.2:c.1455C>T NP_001129074.1:p.Ile485=
NM_001317040.1:c.1992C>T NP_001303969.1:p.Ile664=
NM_000404.4:c.1848C>T MANE Select NP_000395.3:p.Ile616=
NM_001079811.3:c.1758C>T NP_001073279.2:p.Ile586=
NM_001135602.3:c.1455C>T NP_001129074.2:p.Ile485=
NM_001317040.2:c.1992C>T NP_001303969.2:p.Ile664=
NM_001393580.1:c.1734+16825C>T NP_001380509.1:n.1734+16825C>T