Canonical Allele Identifier: CA304854877
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs189691090
gnomAD v3: 19-7529894-C-T
gnomAD v4: 19-7529894-C-T
MyVariant Identifiers: chr19:g.7594780C>T (hg19) chr19:g.7529894C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529894C>T , CM000681.2:g.7529894C>T GRCh38
NC_000019.9:g.7594780C>T , CM000681.1:g.7594780C>T GRCh37
NC_000019.8:g.7500780C>T NCBI36
NG_013374.1:g.743C>T
NG_015806.1:g.12285C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1359+182C>T MANE Select ENSP00000264079.5:n.1359+182C>T
ENST00000264079.10:c.1359+182C>T ENSP00000264079.5:n.1359+182C>T
ENST00000394321.9:n.1674+182C>T
ENST00000594692.1:n.355+182C>T
ENST00000595860.5:n.542+182C>T
ENST00000599334.1:c.236+182C>T
NM_020533.2:c.1359+182C>T NP_065394.1:n.1359+182C>T
NM_020533.3:c.1359+182C>T MANE Select NP_065394.1:n.1359+182C>T
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