Canonical Allele Identifier: CA2499872

Gene: GBE1

Linked Data

• ClinVar Variation Id: 374517
• ClinVar RCV Id: RCV000416121 ; RCV001147052 ; RCV001245740 ; RCV001147053 ; RCV001584110
• dbSNP Id: rs770427750
• ExAC: 3:81695565 T / C
• gnomAD v2: 3-81695565-T-C
• gnomAD v3: 3-81646414-T-C
• gnomAD v4: 3-81646414-T-C
• MyVariant Identifiers: chr3:g.81695565T>C (hg19) ; chr3:g.81646414T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81646414T>C , CM000665.2:g.81646414T>C	GRCh38
NC_000003.11:g.81695565T>C , CM000665.1:g.81695565T>C	GRCh37
NC_000003.10:g.81778255T>C	NCBI36
NG_011810.1:g.120387A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.760A>G MANE Select	ENSP00000410833.2:p.Thr254Ala
ENST00000429644.6:c.760A>G	ENSP00000410833.2:p.Thr254Ala
ENST00000489715.1:c.637A>G	ENSP00000419638.1:p.Thr213Ala
ENST00000498468.1:n.310A>G
NM_000158.3:c.760A>G	NP_000149.3:p.Thr254Ala
NM_000158.4:c.760A>G MANE Select	NP_000149.4:p.Thr254Ala