Canonical Allele Identifier: CA2499990
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs780752628
ExAC: 3:81720044 T / C
gnomAD v2: 3-81720044-T-C
gnomAD v4: 3-81670893-T-C
MyVariant Identifiers: chr3:g.81720044T>C (hg19) chr3:g.81670893T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81670893T>C , CM000665.2:g.81670893T>C GRCh38
NC_000003.11:g.81720044T>C , CM000665.1:g.81720044T>C GRCh37
NC_000003.10:g.81802734T>C NCBI36
NG_011810.1:g.95908A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.374A>G MANE Select ENSP00000410833.2:p.Tyr125Cys
ENST00000429644.6:c.374A>G ENSP00000410833.2:p.Tyr125Cys
ENST00000477426.1:n.90A>G
ENST00000489715.1:c.251A>G ENSP00000419638.1:p.Tyr84Cys
NM_000158.3:c.374A>G NP_000149.3:p.Tyr125Cys
NM_000158.4:c.374A>G MANE Select NP_000149.4:p.Tyr125Cys
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