Canonical Allele Identifier: CA9138798
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2144926
ClinVar RCV Id: RCV003064771
dbSNP Id: rs745435577
ExAC: 19:7592432 C / A
gnomAD v2: 19-7592432-C-A
gnomAD v3: 19-7527546-C-A
gnomAD v4: 19-7527546-C-A
MyVariant Identifiers: chr19:g.7592432C>A (hg19) chr19:g.7527546C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527546C>A , CM000681.2:g.7527546C>A GRCh38
NC_000019.9:g.7592432C>A , CM000681.1:g.7592432C>A GRCh37
NC_000019.8:g.7498432C>A NCBI36
NG_015806.1:g.9937C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.598C>A MANE Select ENSP00000264079.5:p.Arg200=
ENST00000264079.10:c.598C>A ENSP00000264079.5:p.Arg200=
ENST00000394321.9:n.678C>A
ENST00000598406.1:n.419C>A
ENST00000601003.1:c.572-318C>A ENSP00000469074.1:n.572-318C>A
NM_020533.2:c.598C>A NP_065394.1:p.Arg200=
NM_020533.3:c.598C>A MANE Select NP_065394.1:p.Arg200=
Search 100 bp 5'
Search 100 bp 3'