Canonical Allele Identifier: CA9139038
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2139973
ClinVar RCV Id: RCV003052878
dbSNP Id: rs557154932
ExAC: 19:7593872 A / G
gnomAD v2: 19-7593872-A-G
gnomAD v3: 19-7528986-A-G
gnomAD v4: 19-7528986-A-G
MyVariant Identifiers: chr19:g.7593872A>G (hg19) chr19:g.7528986A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528986A>G , CM000681.2:g.7528986A>G GRCh38
NC_000019.9:g.7593872A>G , CM000681.1:g.7593872A>G GRCh37
NC_000019.8:g.7499872A>G NCBI36
NG_015806.1:g.11377A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1134+16A>G MANE Select ENSP00000264079.5:n.1134+16A>G
ENST00000264079.10:c.1134+16A>G ENSP00000264079.5:n.1134+16A>G
ENST00000394321.9:n.1449+16A>G
ENST00000594692.1:n.16A>G
ENST00000595860.5:n.317+16A>G
ENST00000599334.1:c.11+16A>G
NM_020533.2:c.1134+16A>G NP_065394.1:n.1134+16A>G
NM_020533.3:c.1134+16A>G MANE Select NP_065394.1:n.1134+16A>G
Search 100 bp 5'
Search 100 bp 3'