Canonical Allele Identifier: CA353687997

Gene: GBE1

Linked Data

• dbSNP Id: rs778627671
• MyVariant Identifiers: chr3:g.81695546G>A (hg19) ; chr3:g.81646395G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81646395G>A , CM000665.2:g.81646395G>A	GRCh38
NC_000003.11:g.81695546G>A , CM000665.1:g.81695546G>A	GRCh37
NC_000003.10:g.81778236G>A	NCBI36
NG_011810.1:g.120406C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.779C>T MANE Select	ENSP00000410833.2:p.Ser260Phe
ENST00000429644.6:c.779C>T	ENSP00000410833.2:p.Ser260Phe
ENST00000489715.1:c.656C>T	ENSP00000419638.1:p.Ser219Phe
ENST00000498468.1:n.329C>T
NM_000158.3:c.779C>T	NP_000149.3:p.Ser260Phe
NM_000158.4:c.779C>T MANE Select	NP_000149.4:p.Ser260Phe