Canonical Allele Identifier: CA2320962812
Gene: MCOLN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528454C= , CM000681.2:g.7528454C= GRCh38
NC_000019.9:g.7593340C= , CM000681.1:g.7593340C= GRCh37
NC_000019.8:g.7499340C= NCBI36
NG_015806.1:g.10845C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.878-143C= MANE Select ENSP00000264079.5:n.878-143C=
ENST00000264079.10:c.878-143C= ENSP00000264079.5:n.878-143C=
ENST00000394321.9:n.1193-143C=
NM_020533.2:c.878-143C= NP_065394.1:n.878-143C=
NM_020533.3:c.878-143C= MANE Select NP_065394.1:n.878-143C=