Canonical Allele Identifier: CA353688911
Gene: GBE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.81720035G>C (hg19) chr3:g.81670884G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81670884G>C , CM000665.2:g.81670884G>C GRCh38
NC_000003.11:g.81720035G>C , CM000665.1:g.81720035G>C GRCh37
NC_000003.10:g.81802725G>C NCBI36
NG_011810.1:g.95917C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.383C>G MANE Select ENSP00000410833.2:p.Pro128Arg
ENST00000429644.6:c.383C>G ENSP00000410833.2:p.Pro128Arg
ENST00000477426.1:n.99C>G
ENST00000489715.1:c.260C>G ENSP00000419638.1:p.Pro87Arg
NM_000158.3:c.383C>G NP_000149.3:p.Pro128Arg
NM_000158.4:c.383C>G MANE Select NP_000149.4:p.Pro128Arg
Search 100 bp 5'
Search 100 bp 3'