Canonical Allele Identifier: CA9139195
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2872650
ClinVar RCV Id: RCV003615019
dbSNP Id: rs540456257
ExAC: 19:7598396 C / A
gnomAD v2: 19-7598396-C-A
gnomAD v3: 19-7533510-C-A
gnomAD v4: 19-7533510-C-A
MyVariant Identifiers: chr19:g.7598396C>A (hg19) chr19:g.7533510C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533510C>A , CM000681.2:g.7533510C>A GRCh38
NC_000019.9:g.7598396C>A , CM000681.1:g.7598396C>A GRCh37
NC_000019.8:g.7504396C>A NCBI36
NG_013374.1:g.4359C>A
NG_015806.1:g.15901C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1576-13C>A MANE Select ENSP00000264079.5:n.1576-13C>A
ENST00000264079.10:c.1576-13C>A ENSP00000264079.5:n.1576-13C>A
ENST00000394321.9:n.1891-13C>A
ENST00000599334.1:c.304-13C>A
ENST00000602227.1:n.117C>A
NM_020533.2:c.1576-13C>A NP_065394.1:n.1576-13C>A
NM_020533.3:c.1576-13C>A MANE Select NP_065394.1:n.1576-13C>A
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