Canonical Allele Identifier: CA2576597081
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528358del , CM000681.2:g.7528358del GRCh38
NC_000019.9:g.7593244del , CM000681.1:g.7593244del GRCh37
NC_000019.8:g.7499244del NCBI36
NG_015806.1:g.10749del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.877+101del MANE Select ENSP00000264079.5:n.877+101del
ENST00000264079.10:c.877+101del ENSP00000264079.5:n.877+101del
ENST00000394321.9:n.1192+101del
NM_020533.2:c.877+101del NP_065394.1:n.877+101del
NM_020533.3:c.877+101del MANE Select NP_065394.1:n.877+101del