Canonical Allele Identifier: CA353688208
Gene: GBE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.81698005A>C (hg19) chr3:g.81648854A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81648854A>C , CM000665.2:g.81648854A>C GRCh38
NC_000003.11:g.81698005A>C , CM000665.1:g.81698005A>C GRCh37
NC_000003.10:g.81780695A>C NCBI36
NG_011810.1:g.117947T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.691+2T>G MANE Select ENSP00000410833.2:n.691+2T>G
ENST00000429644.6:c.691+2T>G ENSP00000410833.2:n.691+2T>G
ENST00000489715.1:c.568+2T>G ENSP00000419638.1:n.568+2T>G
ENST00000498468.1:n.219+2T>G
NM_000158.3:c.691+2T>G NP_000149.3:n.691+2T>G
NM_000158.4:c.691+2T>G MANE Select NP_000149.4:n.691+2T>G
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