Canonical Allele Identifier: CA351985405

Gene: GLB1

Linked Data

• gnomAD v4: 3-33014154-A-G
• MyVariant Identifiers: chr3:g.33055646A>G (hg19) ; chr3:g.33014154A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33014154A>G , CM000665.2:g.33014154A>G	GRCh38
NC_000003.11:g.33055646A>G , CM000665.1:g.33055646A>G	GRCh37
NC_000003.10:g.33030650A>G	NCBI36
NG_009005.1:g.88049T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1636T>C MANE Select	ENSP00000306920.4:p.Tyr546His
ENST00000307363.9:c.1636T>C	ENSP00000306920.4:p.Tyr546His
ENST00000307377.12:c.1243T>C	ENSP00000305920.8:p.Tyr415His
ENST00000399402.7:c.1546T>C	ENSP00000382333.2:p.Tyr516His
ENST00000461475.5:n.735T>C
ENST00000497796.5:n.888T>C
NM_000404.2:c.1636T>C	NP_000395.2:p.Tyr546His
NM_000404.3:c.1636T>C	NP_000395.2:p.Tyr546His
NM_001079811.1:c.1546T>C	NP_001073279.1:p.Tyr516His
NM_001079811.2:c.1546T>C	NP_001073279.1:p.Tyr516His
NM_001135602.1:c.1243T>C	NP_001129074.1:p.Tyr415His
NM_001135602.2:c.1243T>C	NP_001129074.1:p.Tyr415His
NM_001317040.1:c.1780T>C	NP_001303969.1:p.Tyr594His
NM_000404.4:c.1636T>C MANE Select	NP_000395.3:p.Tyr546His
NM_001079811.3:c.1546T>C	NP_001073279.2:p.Tyr516His
NM_001135602.3:c.1243T>C	NP_001129074.2:p.Tyr415His
NM_001317040.2:c.1780T>C	NP_001303969.2:p.Tyr594His
NM_001393580.1:c.1636T>C	NP_001380509.1:p.Tyr546His