Canonical Allele Identifier: CA631462827
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2010894
ClinVar RCV Id: RCV002834328
dbSNP Id: rs774910423
gnomAD v2: 19-7592853-C-A
gnomAD v4: 19-7527967-C-A
MyVariant Identifiers: chr19:g.7592853C>A (hg19) chr19:g.7527967C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527967C>A , CM000681.2:g.7527967C>A GRCh38
NC_000019.9:g.7592853C>A , CM000681.1:g.7592853C>A GRCh37
NC_000019.8:g.7498853C>A NCBI36
NG_015806.1:g.10358C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.777+7C>A MANE Select ENSP00000264079.5:n.777+7C>A
ENST00000264079.10:c.777+7C>A ENSP00000264079.5:n.777+7C>A
ENST00000394321.9:n.1092+7C>A
NM_020533.2:c.777+7C>A NP_065394.1:n.777+7C>A
NM_020533.3:c.777+7C>A MANE Select NP_065394.1:n.777+7C>A
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