Canonical Allele Identifier: CA2320961917
Gene: MCOLN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526685G= , CM000681.2:g.7526685G= GRCh38
NC_000019.9:g.7591571G= , CM000681.1:g.7591571G= GRCh37
NC_000019.8:g.7497571G= NCBI36
NG_015806.1:g.9076G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.406-76G= MANE Select ENSP00000264079.5:n.406-76G=
ENST00000264079.10:c.406-76G= ENSP00000264079.5:n.406-76G=
ENST00000394321.9:n.486-76G=
ENST00000596008.1:n.368-76G=
ENST00000598406.1:n.227-76G=
ENST00000601003.1:c.406-76G= ENSP00000469074.1:n.406-76G=
NM_020533.2:c.406-76G= NP_065394.1:n.406-76G=
NM_020533.3:c.406-76G= MANE Select NP_065394.1:n.406-76G=