Canonical Allele Identifier: CA2735599855

Gene: MCOLN1

Linked Data

• dbSNP Id: rs2146024428

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7528461del , CM000681.2:g.7528461del	GRCh38
NC_000019.9:g.7593347del , CM000681.1:g.7593347del	GRCh37
NC_000019.8:g.7499347del	NCBI36
NG_015806.1:g.10852del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.878-136del MANE Select	ENSP00000264079.5:n.878-136del
ENST00000264079.10:c.878-136del	ENSP00000264079.5:n.878-136del
ENST00000394321.9:n.1193-136del
NM_020533.2:c.878-136del	NP_065394.1:n.878-136del
NM_020533.3:c.878-136del MANE Select	NP_065394.1:n.878-136del