Canonical Allele Identifier: CA9138638
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1556474
ClinVar RCV Id: RCV002187934
dbSNP Id: rs754565497
ExAC: 19:7589998 C / G
gnomAD v2: 19-7589998-C-G
MyVariant Identifiers: chr19:g.7589998C>G (hg19) chr19:g.7525112C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525112C>G , CM000681.2:g.7525112C>G GRCh38
NC_000019.9:g.7589998C>G , CM000681.1:g.7589998C>G GRCh37
NC_000019.8:g.7495998C>G NCBI36
NG_015806.1:g.7503C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.183C>G MANE Select ENSP00000264079.5:p.Arg61=
ENST00000264079.10:c.183C>G ENSP00000264079.5:p.Arg61=
ENST00000394321.9:n.263C>G
ENST00000596390.1:n.299C>G
ENST00000601003.1:c.183C>G ENSP00000469074.1:p.Arg61=
NM_020533.2:c.183C>G NP_065394.1:p.Arg61=
NM_020533.3:c.183C>G MANE Select NP_065394.1:p.Arg61=
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