Canonical Allele Identifier: CA9138929
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 739205
ClinVar RCV Id: RCV000915158
dbSNP Id: rs199588225
ExAC: 19:7593142 C / T
gnomAD v2: 19-7593142-C-T
gnomAD v3: 19-7528256-C-T
gnomAD v4: 19-7528256-C-T
COSMIC: COSM1003266
MyVariant Identifiers: chr19:g.7593142C>T (hg19) chr19:g.7528256C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528256C>T , CM000681.2:g.7528256C>T GRCh38
NC_000019.9:g.7593142C>T , CM000681.1:g.7593142C>T GRCh37
NC_000019.8:g.7499142C>T NCBI36
NG_015806.1:g.10647C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.876C>T MANE Select ENSP00000264079.5:p.His292=
ENST00000264079.10:c.876C>T ENSP00000264079.5:p.His292=
ENST00000394321.9:n.1191C>T
NM_020533.2:c.876C>T NP_065394.1:p.His292=
NM_020533.3:c.876C>T MANE Select NP_065394.1:p.His292=
Search 100 bp 5'
Search 100 bp 3'