Canonical Allele Identifier: CA2500049

Gene: GBE1

Linked Data

• dbSNP Id: rs765842072
• ExAC: 3:81754794 A / G
• gnomAD v2: 3-81754794-A-G
• gnomAD v4: 3-81705643-A-G
• MyVariant Identifiers: chr3:g.81754794A>G (hg19) ; chr3:g.81705643A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81705643A>G , CM000665.2:g.81705643A>G	GRCh38
NC_000003.11:g.81754794A>G , CM000665.1:g.81754794A>G	GRCh37
NC_000003.10:g.81837484A>G	NCBI36
NG_011810.1:g.61158T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.144-30T>C MANE Select	ENSP00000410833.2:n.144-30T>C
ENST00000429644.6:c.144-30T>C	ENSP00000410833.2:n.144-30T>C
ENST00000489715.1:c.21-30T>C	ENSP00000419638.1:n.21-30T>C
NM_000158.3:c.144-30T>C	NP_000149.3:n.144-30T>C
NM_000158.4:c.144-30T>C MANE Select	NP_000149.4:n.144-30T>C