Canonical Allele Identifier: CA9138882
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2738823
ClinVar RCV Id: RCV003506644
dbSNP Id: rs757051981
ExAC: 19:7592786 C / A
gnomAD v2: 19-7592786-C-A
MyVariant Identifiers: chr19:g.7592786C>A (hg19) chr19:g.7527900C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527900C>A , CM000681.2:g.7527900C>A GRCh38
NC_000019.9:g.7592786C>A , CM000681.1:g.7592786C>A GRCh37
NC_000019.8:g.7498786C>A NCBI36
NG_015806.1:g.10291C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.717C>A MANE Select ENSP00000264079.5:p.Thr239=
ENST00000264079.10:c.717C>A ENSP00000264079.5:p.Thr239=
ENST00000394321.9:n.1032C>A
NM_020533.2:c.717C>A NP_065394.1:p.Thr239=
NM_020533.3:c.717C>A MANE Select NP_065394.1:p.Thr239=
Search 100 bp 5'
Search 100 bp 3'