Canonical Allele Identifier: CA9138733
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 893314
ClinVar RCV Id: RCV001131106
dbSNP Id: rs142259322
ExAC: 19:7591654 C / T
gnomAD v2: 19-7591654-C-T
gnomAD v3: 19-7526768-C-T
gnomAD v4: 19-7526768-C-T
MyVariant Identifiers: chr19:g.7591654C>T (hg19) chr19:g.7526768C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526768C>T , CM000681.2:g.7526768C>T GRCh38
NC_000019.9:g.7591654C>T , CM000681.1:g.7591654C>T GRCh37
NC_000019.8:g.7497654C>T NCBI36
NG_015806.1:g.9159C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.413C>T MANE Select ENSP00000264079.5:p.Ala138Val
ENST00000264079.10:c.413C>T ENSP00000264079.5:p.Ala138Val
ENST00000394321.9:n.493C>T
ENST00000596008.1:n.375C>T
ENST00000598406.1:n.234C>T
ENST00000601003.1:c.413C>T ENSP00000469074.1:p.Ala138Val
NM_020533.2:c.413C>T NP_065394.1:p.Ala138Val
NM_020533.3:c.413C>T MANE Select NP_065394.1:p.Ala138Val
Search 100 bp 5'
Search 100 bp 3'