Canonical Allele Identifier: CA9138962
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 330496
ClinVar RCV Id: RCV000270427 RCV003168495
dbSNP Id: rs137887342
ExAC: 19:7593554 G / A
gnomAD v2: 19-7593554-G-A
gnomAD v3: 19-7528668-G-A
gnomAD v4: 19-7528668-G-A
COSMIC: COSM3981725
MyVariant Identifiers: chr19:g.7593554G>A (hg19) chr19:g.7528668G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528668G>A , CM000681.2:g.7528668G>A GRCh38
NC_000019.9:g.7593554G>A , CM000681.1:g.7593554G>A GRCh37
NC_000019.8:g.7499554G>A NCBI36
NG_015806.1:g.11059G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.949G>A MANE Select ENSP00000264079.5:p.Ala317Thr
ENST00000264079.10:c.949G>A ENSP00000264079.5:p.Ala317Thr
ENST00000394321.9:n.1264G>A
ENST00000595860.5:n.15G>A
NM_020533.2:c.949G>A NP_065394.1:p.Ala317Thr
NM_020533.3:c.949G>A MANE Select NP_065394.1:p.Ala317Thr
Search 100 bp 5'
Search 100 bp 3'