Canonical Allele Identifier: CA403092197
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533793T>A , CM000681.2:g.7533793T>A GRCh38
NC_000019.9:g.7598679T>A , CM000681.1:g.7598679T>A GRCh37
NC_000019.8:g.7504679T>A NCBI36
NG_013374.1:g.4642T>A
NG_015806.1:g.16184T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1741T>A MANE Select ENSP00000264079.5:p.Ter581Arg
ENST00000264079.10:c.1741T>A ENSP00000264079.5:p.Ter581Arg
ENST00000394321.9:n.2056T>A
ENST00000599334.1:c.469T>A
ENST00000601870.1:c.94T>A
ENST00000602227.1:n.295T>A
NM_020533.2:c.1741T>A NP_065394.1:p.Ter581Arg
NM_020533.3:c.1741T>A MANE Select NP_065394.1:p.Ter581Arg