Canonical Allele Identifier: CA2320961365
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2022550132
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525110dup , CM000681.2:g.7525110dup GRCh38
NC_000019.9:g.7589996dup , CM000681.1:g.7589996dup GRCh37
NC_000019.8:g.7495996dup NCBI36
NG_015806.1:g.7501dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.181dup MANE Select ENSP00000264079.5:p.Arg61ProfsTer27
ENST00000264079.10:c.181dup ENSP00000264079.5:p.Arg61ProfsTer27
ENST00000394321.9:n.261dup
ENST00000596390.1:n.297dup
ENST00000601003.1:c.181dup ENSP00000469074.1:p.Arg61ProfsTer27
NM_020533.2:c.181dup NP_065394.1:p.Arg61ProfsTer27
NM_020533.3:c.181dup MANE Select NP_065394.1:p.Arg61ProfsTer27
Search 100 bp 5'
Search 100 bp 3'