Canonical Allele Identifier: CA403086812
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529147C>A , CM000681.2:g.7529147C>A GRCh38
NC_000019.9:g.7594033C>A , CM000681.1:g.7594033C>A GRCh37
NC_000019.8:g.7500033C>A NCBI36
NG_015806.1:g.11538C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1181C>A MANE Select ENSP00000264079.5:p.Thr394Lys
ENST00000264079.10:c.1181C>A ENSP00000264079.5:p.Thr394Lys
ENST00000394321.9:n.1496C>A
ENST00000594692.1:n.177C>A
ENST00000595860.5:n.364C>A
ENST00000599334.1:c.58C>A
NM_020533.2:c.1181C>A NP_065394.1:p.Thr394Lys
NM_020533.3:c.1181C>A MANE Select NP_065394.1:p.Thr394Lys