Canonical Allele Identifier: CA304852893
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 795374
ClinVar RCV Id: RCV000978693
dbSNP Id: rs937781548
gnomAD v2: 19-7591739-C-T
gnomAD v3: 19-7526853-C-T
gnomAD v4: 19-7526853-C-T
MyVariant Identifiers: chr19:g.7591739C>T (hg19) chr19:g.7526853C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526853C>T , CM000681.2:g.7526853C>T GRCh38
NC_000019.9:g.7591739C>T , CM000681.1:g.7591739C>T GRCh37
NC_000019.8:g.7497739C>T NCBI36
NG_015806.1:g.9244C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.498C>T MANE Select ENSP00000264079.5:p.Cys166=
ENST00000264079.10:c.498C>T ENSP00000264079.5:p.Cys166=
ENST00000394321.9:n.578C>T
ENST00000596008.1:n.460C>T
ENST00000598406.1:n.319C>T
ENST00000601003.1:c.498C>T ENSP00000469074.1:p.Cys166=
NM_020533.2:c.498C>T NP_065394.1:p.Cys166=
NM_020533.3:c.498C>T MANE Select NP_065394.1:p.Cys166=
Search 100 bp 5'
Search 100 bp 3'