Canonical Allele Identifier: CA9138749
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 751301
ClinVar RCV Id: RCV000928348
dbSNP Id: rs750573419
ExAC: 19:7591745 G / A
gnomAD v2: 19-7591745-G-A
gnomAD v3: 19-7526859-G-A
gnomAD v4: 19-7526859-G-A
MyVariant Identifiers: chr19:g.7591745G>A (hg19) chr19:g.7526859G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526859G>A , CM000681.2:g.7526859G>A GRCh38
NC_000019.9:g.7591745G>A , CM000681.1:g.7591745G>A GRCh37
NC_000019.8:g.7497745G>A NCBI36
NG_015806.1:g.9250G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.504G>A MANE Select ENSP00000264079.5:p.Arg168=
ENST00000264079.10:c.504G>A ENSP00000264079.5:p.Arg168=
ENST00000394321.9:n.584G>A
ENST00000596008.1:n.466G>A
ENST00000598406.1:n.325G>A
ENST00000601003.1:c.504G>A ENSP00000469074.1:p.Arg168=
NM_020533.2:c.504G>A NP_065394.1:p.Arg168=
NM_020533.3:c.504G>A MANE Select NP_065394.1:p.Arg168=
Search 100 bp 5'
Search 100 bp 3'