Canonical Allele Identifier: CA505231024
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1128347
ClinVar RCV Id: RCV001461085
dbSNP Id: rs2022600463
gnomAD v4: 19-7528226-G-A
MyVariant Identifiers: chr19:g.7593112G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528226G>A , CM000681.2:g.7528226G>A GRCh38
NC_000019.9:g.7593112G>A , CM000681.1:g.7593112G>A GRCh37
NC_000019.8:g.7499112G>A NCBI36
NG_015806.1:g.10617G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.846G>A MANE Select ENSP00000264079.5:p.Gln282=
ENST00000264079.10:c.846G>A ENSP00000264079.5:p.Gln282=
ENST00000394321.9:n.1161G>A
NM_020533.2:c.846G>A NP_065394.1:p.Gln282=
NM_020533.3:c.846G>A MANE Select NP_065394.1:p.Gln282=
Search 100 bp 5'
Search 100 bp 3'