Canonical Allele Identifier: CA9139190
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1551399
ClinVar RCV Id: RCV002196754
dbSNP Id: rs534380558
ExAC: 19:7598391 C / T
gnomAD v2: 19-7598391-C-T
gnomAD v3: 19-7533505-C-T
gnomAD v4: 19-7533505-C-T
MyVariant Identifiers: chr19:g.7598391C>T (hg19) chr19:g.7533505C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533505C>T , CM000681.2:g.7533505C>T GRCh38
NC_000019.9:g.7598391C>T , CM000681.1:g.7598391C>T GRCh37
NC_000019.8:g.7504391C>T NCBI36
NG_013374.1:g.4354C>T
NG_015806.1:g.15896C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1576-18C>T MANE Select ENSP00000264079.5:n.1576-18C>T
ENST00000264079.10:c.1576-18C>T ENSP00000264079.5:n.1576-18C>T
ENST00000394321.9:n.1891-18C>T
ENST00000599334.1:c.304-18C>T
ENST00000602227.1:n.112C>T
NM_020533.2:c.1576-18C>T NP_065394.1:n.1576-18C>T
NM_020533.3:c.1576-18C>T MANE Select NP_065394.1:n.1576-18C>T
Search 100 bp 5'
Search 100 bp 3'