Canonical Allele Identifier: CA403085725
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1997684
ClinVar RCV Id: RCV002791902
gnomAD v4: 19-7528841-G-A
MyVariant Identifiers: chr19:g.7593727G>A (hg19) chr19:g.7528841G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528841G>A , CM000681.2:g.7528841G>A GRCh38
NC_000019.9:g.7593727G>A , CM000681.1:g.7593727G>A GRCh37
NC_000019.8:g.7499727G>A NCBI36
NG_015806.1:g.11232G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1005G>A MANE Select ENSP00000264079.5:p.Trp335Ter
ENST00000264079.10:c.1005G>A ENSP00000264079.5:p.Trp335Ter
ENST00000394321.9:n.1320G>A
ENST00000595860.5:n.188G>A
NM_020533.2:c.1005G>A NP_065394.1:p.Trp335Ter
NM_020533.3:c.1005G>A MANE Select NP_065394.1:p.Trp335Ter
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