Canonical Allele Identifier: CA403083895
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3052829
ClinVar RCV Id: RCV003971556
gnomAD v4: 19-7527891-G-A
MyVariant Identifiers: chr19:g.7592777G>A (hg19) chr19:g.7527891G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527891G>A , CM000681.2:g.7527891G>A GRCh38
NC_000019.9:g.7592777G>A , CM000681.1:g.7592777G>A GRCh37
NC_000019.8:g.7498777G>A NCBI36
NG_015806.1:g.10282G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.708G>A MANE Select ENSP00000264079.5:p.Arg236=
ENST00000264079.10:c.708G>A ENSP00000264079.5:p.Arg236=
ENST00000394321.9:n.1023G>A
ENST00000601003.1:c.599G>A ENSP00000469074.1:p.Gly200Asp
NM_020533.2:c.708G>A NP_065394.1:p.Arg236=
NM_020533.3:c.708G>A MANE Select NP_065394.1:p.Arg236=
Search 100 bp 5'
Search 100 bp 3'