Canonical Allele Identifier: CA9139229
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 894594
ClinVar RCV Id: RCV001135689
dbSNP Id: rs756087583
ExAC: 19:7598550 C / T
gnomAD v2: 19-7598550-C-T
gnomAD v3: 19-7533664-C-T
gnomAD v4: 19-7533664-C-T
MyVariant Identifiers: chr19:g.7598550C>T (hg19) chr19:g.7533664C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533664C>T , CM000681.2:g.7533664C>T GRCh38
NC_000019.9:g.7598550C>T , CM000681.1:g.7598550C>T GRCh37
NC_000019.8:g.7504550C>T NCBI36
NG_013374.1:g.4513C>T
NG_015806.1:g.16055C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1706+11C>T MANE Select ENSP00000264079.5:n.1706+11C>T
ENST00000264079.10:c.1706+11C>T ENSP00000264079.5:n.1706+11C>T
ENST00000394321.9:n.2021+11C>T
ENST00000599334.1:c.434+11C>T
ENST00000601870.1:c.59+11C>T
ENST00000602227.1:n.260+11C>T
NM_020533.2:c.1706+11C>T NP_065394.1:n.1706+11C>T
NM_020533.3:c.1706+11C>T MANE Select NP_065394.1:n.1706+11C>T
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