Canonical Allele Identifier: CA353687670
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81705479-G-C
MyVariant Identifiers: chr3:g.81754630G>C (hg19) chr3:g.81705479G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705479G>C , CM000665.2:g.81705479G>C GRCh38
NC_000003.11:g.81754630G>C , CM000665.1:g.81754630G>C GRCh37
NC_000003.10:g.81837320G>C NCBI36
NG_011810.1:g.61322C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.278C>G MANE Select ENSP00000410833.2:p.Pro93Arg
ENST00000429644.6:c.278C>G ENSP00000410833.2:p.Pro93Arg
ENST00000489715.1:c.155C>G ENSP00000419638.1:p.Pro52Arg
NM_000158.3:c.278C>G NP_000149.3:p.Pro93Arg
NM_000158.4:c.278C>G MANE Select NP_000149.4:p.Pro93Arg
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