Canonical Allele Identifier: CA2587948581
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2761541
ClinVar RCV Id: RCV003504996
gnomAD v4: 19-7528267-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528267T>A , CM000681.2:g.7528267T>A GRCh38
NC_000019.9:g.7593153T>A , CM000681.1:g.7593153T>A GRCh37
NC_000019.8:g.7499153T>A NCBI36
NG_015806.1:g.10658T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.877+10T>A MANE Select ENSP00000264079.5:n.877+10T>A
ENST00000264079.10:c.877+10T>A ENSP00000264079.5:n.877+10T>A
ENST00000394321.9:n.1192+10T>A
NM_020533.2:c.877+10T>A NP_065394.1:n.877+10T>A
NM_020533.3:c.877+10T>A MANE Select NP_065394.1:n.877+10T>A
Search 100 bp 5'
Search 100 bp 3'