Canonical Allele Identifier: CA2320961094
Gene: MCOLN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7524908G= , CM000681.2:g.7524908G= GRCh38
NC_000019.9:g.7589794G= , CM000681.1:g.7589794G= GRCh37
NC_000019.8:g.7495794G= NCBI36
NG_015806.1:g.7299G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.32-53G= MANE Select ENSP00000264079.5:n.32-53G=
ENST00000264079.10:c.32-53G= ENSP00000264079.5:n.32-53G=
ENST00000394321.9:n.112-53G=
ENST00000596390.1:n.148-53G=
ENST00000601003.1:c.32-53G= ENSP00000469074.1:n.32-53G=
NM_020533.2:c.32-53G= NP_065394.1:n.32-53G=
XR_936293.1:n.47C=
XR_936294.1:n.47C=
XR_936295.1:n.47C=
XR_936293.2:n.73C=
XR_936294.2:n.73C=
NM_020533.3:c.32-53G= MANE Select NP_065394.1:n.32-53G=