Canonical Allele Identifier: CA9138971
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 261324
ClinVar RCV Id: RCV000254195 RCV000380192 RCV000675740
dbSNP Id: rs612862
ExAC: 19:7593589 C / T
gnomAD v2: 19-7593589-C-T
gnomAD v3: 19-7528703-C-T
gnomAD v4: 19-7528703-C-T
MyVariant Identifiers: chr19:g.7593589C>T (hg19) chr19:g.7528703C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528703C>T , CM000681.2:g.7528703C>T GRCh38
NC_000019.9:g.7593589C>T , CM000681.1:g.7593589C>T GRCh37
NC_000019.8:g.7499589C>T NCBI36
NG_015806.1:g.11094C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.984C>T MANE Select ENSP00000264079.5:p.Asn328=
ENST00000264079.10:c.984C>T ENSP00000264079.5:p.Asn328=
ENST00000394321.9:n.1299C>T
ENST00000595860.5:n.50C>T
NM_020533.2:c.984C>T NP_065394.1:p.Asn328=
NM_020533.3:c.984C>T MANE Select NP_065394.1:p.Asn328=
Search 100 bp 5'
Search 100 bp 3'