Canonical Allele Identifier: CA304853754
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 496447
ClinVar RCV Id: RCV000588312 RCV001273278
dbSNP Id: rs12462124
gnomAD v2: 19-7592945-G-A
gnomAD v3: 19-7528059-G-A
gnomAD v4: 19-7528059-G-A
COSMIC: COSN5268705
MyVariant Identifiers: chr19:g.7592945G>A (hg19) chr19:g.7528059G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528059G>A , CM000681.2:g.7528059G>A GRCh38
NC_000019.9:g.7592945G>A , CM000681.1:g.7592945G>A GRCh37
NC_000019.8:g.7498945G>A NCBI36
NG_015806.1:g.10450G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.778-99G>A MANE Select ENSP00000264079.5:n.778-99G>A
ENST00000264079.10:c.778-99G>A ENSP00000264079.5:n.778-99G>A
ENST00000394321.9:n.1093-99G>A
NM_020533.2:c.778-99G>A NP_065394.1:n.778-99G>A
NM_020533.3:c.778-99G>A MANE Select NP_065394.1:n.778-99G>A
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