Canonical Allele Identifier: CA9139226
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2139000
ClinVar RCV Id: RCV003050788
dbSNP Id: rs370093987
ExAC: 19:7598543 C / T
gnomAD v2: 19-7598543-C-T
gnomAD v3: 19-7533657-C-T
gnomAD v4: 19-7533657-C-T
MyVariant Identifiers: chr19:g.7598543C>T (hg19) chr19:g.7533657C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533657C>T , CM000681.2:g.7533657C>T GRCh38
NC_000019.9:g.7598543C>T , CM000681.1:g.7598543C>T GRCh37
NC_000019.8:g.7504543C>T NCBI36
NG_013374.1:g.4506C>T
NG_015806.1:g.16048C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1706+4C>T MANE Select ENSP00000264079.5:n.1706+4C>T
ENST00000264079.10:c.1706+4C>T ENSP00000264079.5:n.1706+4C>T
ENST00000394321.9:n.2021+4C>T
ENST00000599334.1:c.434+4C>T
ENST00000601870.1:c.59+4C>T
ENST00000602227.1:n.260+4C>T
NM_020533.2:c.1706+4C>T NP_065394.1:n.1706+4C>T
NM_020533.3:c.1706+4C>T MANE Select NP_065394.1:n.1706+4C>T
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