Canonical Allele Identifier: CA304852790
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs753134788

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526693del , CM000681.2:g.7526693del GRCh38
NC_000019.9:g.7591579del , CM000681.1:g.7591579del GRCh37
NC_000019.8:g.7497579del NCBI36
NG_015806.1:g.9084del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.406-68del MANE Select ENSP00000264079.5:n.406-68del
ENST00000264079.10:c.406-68del ENSP00000264079.5:n.406-68del
ENST00000394321.9:n.486-68del
ENST00000596008.1:n.368-68del
ENST00000598406.1:n.227-68del
ENST00000601003.1:c.406-68del ENSP00000469074.1:n.406-68del
NM_020533.2:c.406-68del NP_065394.1:n.406-68del
NM_020533.3:c.406-68del MANE Select NP_065394.1:n.406-68del