Canonical Allele Identifier: CA353688129
Gene: GBE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.81695602C>G (hg19) chr3:g.81646451C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646451C>G , CM000665.2:g.81646451C>G GRCh38
NC_000003.11:g.81695602C>G , CM000665.1:g.81695602C>G GRCh37
NC_000003.10:g.81778292C>G NCBI36
NG_011810.1:g.120350G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.723G>C MANE Select ENSP00000410833.2:p.Met241Ile
ENST00000429644.6:c.723G>C ENSP00000410833.2:p.Met241Ile
ENST00000489715.1:c.600G>C ENSP00000419638.1:p.Met200Ile
ENST00000498468.1:n.273G>C
NM_000158.3:c.723G>C NP_000149.3:p.Met241Ile
NM_000158.4:c.723G>C MANE Select NP_000149.4:p.Met241Ile
Search 100 bp 5'
Search 100 bp 3'