Canonical Allele Identifier: CA353687778

Gene: GBE1

Linked Data

• MyVariant Identifiers: chr3:g.81754676C>A (hg19) ; chr3:g.81705525C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81705525C>A , CM000665.2:g.81705525C>A	GRCh38
NC_000003.11:g.81754676C>A , CM000665.1:g.81754676C>A	GRCh37
NC_000003.10:g.81837366C>A	NCBI36
NG_011810.1:g.61276G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.232G>T MANE Select	ENSP00000410833.2:p.Val78Phe
ENST00000429644.6:c.232G>T	ENSP00000410833.2:p.Val78Phe
ENST00000489715.1:c.109G>T	ENSP00000419638.1:p.Val37Phe
NM_000158.3:c.232G>T	NP_000149.3:p.Val78Phe
NM_000158.4:c.232G>T MANE Select	NP_000149.4:p.Val78Phe