Canonical Allele Identifier: CA353687846

Gene: GBE1

Linked Data

• MyVariant Identifiers: chr3:g.81754706T>A (hg19) ; chr3:g.81705555T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81705555T>A , CM000665.2:g.81705555T>A	GRCh38
NC_000003.11:g.81754706T>A , CM000665.1:g.81754706T>A	GRCh37
NC_000003.10:g.81837396T>A	NCBI36
NG_011810.1:g.61246A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.202A>T MANE Select	ENSP00000410833.2:p.Lys68Ter
ENST00000429644.6:c.202A>T	ENSP00000410833.2:p.Lys68Ter
ENST00000489715.1:c.79A>T	ENSP00000419638.1:p.Lys27Ter
NM_000158.3:c.202A>T	NP_000149.3:p.Lys68Ter
NM_000158.4:c.202A>T MANE Select	NP_000149.4:p.Lys68Ter