Canonical Allele Identifier: CA9138886
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1936368
ClinVar RCV Id: RCV002642548
dbSNP Id: rs565619648
ExAC: 19:7592806 T / A
gnomAD v2: 19-7592806-T-A
gnomAD v3: 19-7527920-T-A
gnomAD v4: 19-7527920-T-A
MyVariant Identifiers: chr19:g.7592806T>A (hg19) chr19:g.7527920T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527920T>A , CM000681.2:g.7527920T>A GRCh38
NC_000019.9:g.7592806T>A , CM000681.1:g.7592806T>A GRCh37
NC_000019.8:g.7498806T>A NCBI36
NG_015806.1:g.10311T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.737T>A MANE Select ENSP00000264079.5:p.Ile246Asn
ENST00000264079.10:c.737T>A ENSP00000264079.5:p.Ile246Asn
ENST00000394321.9:n.1052T>A
NM_020533.2:c.737T>A NP_065394.1:p.Ile246Asn
NM_020533.3:c.737T>A MANE Select NP_065394.1:p.Ile246Asn
Search 100 bp 5'
Search 100 bp 3'