Canonical Allele Identifier: CA2587949904
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2836257
ClinVar RCV Id: RCV003613990
gnomAD v4: 19-7529724-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529724C>A , CM000681.2:g.7529724C>A GRCh38
NC_000019.9:g.7594610C>A , CM000681.1:g.7594610C>A GRCh37
NC_000019.8:g.7500610C>A NCBI36
NG_013374.1:g.573C>A
NG_015806.1:g.12115C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1359+12C>A MANE Select ENSP00000264079.5:n.1359+12C>A
ENST00000264079.10:c.1359+12C>A ENSP00000264079.5:n.1359+12C>A
ENST00000394321.9:n.1674+12C>A
ENST00000594692.1:n.355+12C>A
ENST00000595860.5:n.542+12C>A
ENST00000599334.1:c.236+12C>A
NM_020533.2:c.1359+12C>A NP_065394.1:n.1359+12C>A
NM_020533.3:c.1359+12C>A MANE Select NP_065394.1:n.1359+12C>A
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