Canonical Allele Identifier: CA2320961145
Gene: MCOLN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7524992G= , CM000681.2:g.7524992G= GRCh38
NC_000019.9:g.7589878G= , CM000681.1:g.7589878G= GRCh37
NC_000019.8:g.7495878G= NCBI36
NG_015806.1:g.7383G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.63G= MANE Select ENSP00000264079.5:p.Gly21=
ENST00000264079.10:c.63G= ENSP00000264079.5:p.Gly21=
ENST00000394321.9:n.143G=
ENST00000596390.1:n.179G=
ENST00000601003.1:c.63G= ENSP00000469074.1:p.Gly21=
NM_020533.2:c.63G= NP_065394.1:p.Gly21=
NM_020533.3:c.63G= MANE Select NP_065394.1:p.Gly21=