Canonical Allele Identifier: CA432953658
Gene: GLB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.33063106A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.33021614A>G , CM000665.2:g.33021614A>G GRCh38
NC_000003.11:g.33063106A>G , CM000665.1:g.33063106A>G GRCh37
NC_000003.10:g.33038110A>G NCBI36
NG_009005.1:g.80589T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307363.10:c.1185T>C MANE Select ENSP00000306920.4:p.Ser395=
ENST00000307363.9:c.1185T>C ENSP00000306920.4:p.Ser395=
ENST00000307377.12:c.792T>C ENSP00000305920.8:p.Ser264=
ENST00000399402.7:c.1095T>C ENSP00000382333.2:p.Ser365=
ENST00000461475.5:n.284T>C
ENST00000467571.5:n.222T>C
ENST00000473477.1:n.217T>C
ENST00000497796.5:n.437T>C
NM_000404.2:c.1185T>C NP_000395.2:p.Ser395=
NM_000404.3:c.1185T>C NP_000395.2:p.Ser395=
NM_001079811.1:c.1095T>C NP_001073279.1:p.Ser365=
NM_001079811.2:c.1095T>C NP_001073279.1:p.Ser365=
NM_001135602.1:c.792T>C NP_001129074.1:p.Ser264=
NM_001135602.2:c.792T>C NP_001129074.1:p.Ser264=
NM_001317040.1:c.1329T>C NP_001303969.1:p.Ser443=
XR_001740634.1:n.1543-574A>G
NM_000404.4:c.1185T>C MANE Select NP_000395.3:p.Ser395=
NM_001079811.3:c.1095T>C NP_001073279.2:p.Ser365=
NM_001135602.3:c.792T>C NP_001129074.2:p.Ser264=
NM_001317040.2:c.1329T>C NP_001303969.2:p.Ser443=
NM_001393580.1:c.1185T>C NP_001380509.1:p.Ser395=