Canonical Allele Identifier: CA9139037
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2696543
ClinVar RCV Id: RCV003505460
dbSNP Id: rs752481329
ExAC: 19:7593870 A / G
gnomAD v2: 19-7593870-A-G
gnomAD v4: 19-7528984-A-G
MyVariant Identifiers: chr19:g.7593870A>G (hg19) chr19:g.7528984A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528984A>G , CM000681.2:g.7528984A>G GRCh38
NC_000019.9:g.7593870A>G , CM000681.1:g.7593870A>G GRCh37
NC_000019.8:g.7499870A>G NCBI36
NG_015806.1:g.11375A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1134+14A>G MANE Select ENSP00000264079.5:n.1134+14A>G
ENST00000264079.10:c.1134+14A>G ENSP00000264079.5:n.1134+14A>G
ENST00000394321.9:n.1449+14A>G
ENST00000594692.1:n.14A>G
ENST00000595860.5:n.317+14A>G
ENST00000599334.1:c.11+14A>G
NM_020533.2:c.1134+14A>G NP_065394.1:n.1134+14A>G
NM_020533.3:c.1134+14A>G MANE Select NP_065394.1:n.1134+14A>G
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