Canonical Allele Identifier: CA505231914
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2902866
ClinVar RCV Id: RCV003615313
gnomAD v4: 19-7524968-G-A
MyVariant Identifiers: chr19:g.7589854G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7524968G>A , CM000681.2:g.7524968G>A GRCh38
NC_000019.9:g.7589854G>A , CM000681.1:g.7589854G>A GRCh37
NC_000019.8:g.7495854G>A NCBI36
NG_015806.1:g.7359G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.39G>A MANE Select ENSP00000264079.5:p.Glu13=
ENST00000264079.10:c.39G>A ENSP00000264079.5:p.Glu13=
ENST00000394321.9:n.119G>A
ENST00000596390.1:n.155G>A
ENST00000601003.1:c.39G>A ENSP00000469074.1:p.Glu13=
NM_020533.2:c.39G>A NP_065394.1:p.Glu13=
XR_936293.2:n.13C>T
XR_936294.2:n.13C>T
NM_020533.3:c.39G>A MANE Select NP_065394.1:p.Glu13=