Canonical Allele Identifier: CA304853981
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs569984732
gnomAD v2: 19-7593340-C-A
gnomAD v3: 19-7528454-C-A
gnomAD v4: 19-7528454-C-A
MyVariant Identifiers: chr19:g.7593340C>A (hg19) chr19:g.7528454C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528454C>A , CM000681.2:g.7528454C>A GRCh38
NC_000019.9:g.7593340C>A , CM000681.1:g.7593340C>A GRCh37
NC_000019.8:g.7499340C>A NCBI36
NG_015806.1:g.10845C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.878-143C>A MANE Select ENSP00000264079.5:n.878-143C>A
ENST00000264079.10:c.878-143C>A ENSP00000264079.5:n.878-143C>A
ENST00000394321.9:n.1193-143C>A
NM_020533.2:c.878-143C>A NP_065394.1:n.878-143C>A
NM_020533.3:c.878-143C>A MANE Select NP_065394.1:n.878-143C>A
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