Canonical Allele Identifier: CA544278552
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs1475832129
gnomAD v2: 3-81697913-T-C
gnomAD v3: 3-81648762-T-C
gnomAD v4: 3-81648762-T-C
MyVariant Identifiers: chr3:g.81697913T>C (hg19) chr3:g.81648762T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81648762T>C , CM000665.2:g.81648762T>C GRCh38
NC_000003.11:g.81697913T>C , CM000665.1:g.81697913T>C GRCh37
NC_000003.10:g.81780603T>C NCBI36
NG_011810.1:g.118039A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.691+94A>G MANE Select ENSP00000410833.2:n.691+94A>G
ENST00000429644.6:c.691+94A>G ENSP00000410833.2:n.691+94A>G
ENST00000489715.1:c.568+94A>G ENSP00000419638.1:n.568+94A>G
ENST00000498468.1:n.219+94A>G
NM_000158.3:c.691+94A>G NP_000149.3:n.691+94A>G
NM_000158.4:c.691+94A>G MANE Select NP_000149.4:n.691+94A>G
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