Canonical Allele Identifier: CA78280211

Gene: GBE1

Linked Data

• dbSNP Id: rs954426612
• MyVariant Identifiers: chr3:g.81584686A>C (hg19) ; chr3:g.81535535A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81535535A>C , CM000665.2:g.81535535A>C	GRCh38
NC_000003.11:g.81584686A>C , CM000665.1:g.81584686A>C	GRCh37
NC_000003.10:g.81667376A>C	NCBI36
NG_011810.1:g.231266T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.1804-210T>G MANE Select	ENSP00000410833.2:n.1804-210T>G
ENST00000429644.6:c.1804-210T>G	ENSP00000410833.2:n.1804-210T>G
ENST00000484687.1:n.205-210T>G
ENST00000489715.1:c.1681-210T>G	ENSP00000419638.1:n.1681-210T>G
NM_000158.3:c.1804-210T>G	NP_000149.3:n.1804-210T>G
NM_000158.4:c.1804-210T>G MANE Select	NP_000149.4:n.1804-210T>G