Canonical Allele Identifier: CA9138972
Gene: MCOLN1 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.7528704G>A
GRCh37 chr19:g.7593590G>A
gnomAD v2:
19:7593590 G / A
gnomAD v3:
19:7528704 G / A
gnomAD v4:
chr19-7528704-G-A
Joint Max Group AF 0.00001425 (SAS)
Genomes Max Group AF 0.00000797 (AFR)
Exomes Max Group AF 0.00001583 (SAS)
ClinVar RCV:
RCV000411895
ClinVar Variation:
371019
dbSNP:
767950930
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528704G>A , CM000681.2:g.7528704G>A GRCh38
NC_000019.9:g.7593590G>A , CM000681.1:g.7593590G>A GRCh37
NC_000019.8:g.7499590G>A NCBI36
NG_015806.1:g.11095G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.984+1G>A MANE Select ENSP00000264079.5:n.984+1G>A
ENST00000264079.10:c.984+1G>A ENSP00000264079.5:n.984+1G>A
ENST00000394321.9:n.1299+1G>A
ENST00000595860.5:n.51G>A
NM_020533.2:c.984+1G>A NP_065394.1:n.984+1G>A
NM_020533.3:c.984+1G>A MANE Select NP_065394.1:n.984+1G>A
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