Canonical Allele Identifier: CA403085019
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2020264
ClinVar RCV Id: RCV002852436
gnomAD v4: 19-7528257-G-C
MyVariant Identifiers: chr19:g.7593143G>C (hg19) chr19:g.7528257G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528257G>C , CM000681.2:g.7528257G>C GRCh38
NC_000019.9:g.7593143G>C , CM000681.1:g.7593143G>C GRCh37
NC_000019.8:g.7499143G>C NCBI36
NG_015806.1:g.10648G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.877G>C MANE Select ENSP00000264079.5:p.Gly293Arg
ENST00000264079.10:c.877G>C ENSP00000264079.5:p.Gly293Arg
ENST00000394321.9:n.1192G>C
NM_020533.2:c.877G>C NP_065394.1:p.Gly293Arg
NM_020533.3:c.877G>C MANE Select NP_065394.1:p.Gly293Arg
Search 100 bp 5'
Search 100 bp 3'