Canonical Allele Identifier: CA2320961086
Gene: MCOLN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7524888C= , CM000681.2:g.7524888C= GRCh38
NC_000019.9:g.7589774C= , CM000681.1:g.7589774C= GRCh37
NC_000019.8:g.7495774C= NCBI36
NG_015806.1:g.7279C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.32-73C= MANE Select ENSP00000264079.5:n.32-73C=
ENST00000264079.10:c.32-73C= ENSP00000264079.5:n.32-73C=
ENST00000394321.9:n.112-73C=
ENST00000596390.1:n.148-73C=
ENST00000601003.1:c.32-73C= ENSP00000469074.1:n.32-73C=
NM_020533.2:c.32-73C= NP_065394.1:n.32-73C=
XR_936293.1:n.67G=
XR_936294.1:n.67G=
XR_936295.1:n.67G=
XR_936293.2:n.93G=
XR_936294.2:n.93G=
NM_020533.3:c.32-73C= MANE Select NP_065394.1:n.32-73C=