Canonical Allele Identifier: CA884206119
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs940546793
gnomAD v3: 19-7533904-G-C
gnomAD v4: 19-7533904-G-C
MyVariant Identifiers: chr19:g.7598790G>C (hg19) chr19:g.7533904G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533904G>C , CM000681.2:g.7533904G>C GRCh38
NC_000019.9:g.7598790G>C , CM000681.1:g.7598790G>C GRCh37
NC_000019.8:g.7504790G>C NCBI36
NG_013374.1:g.4753G>C
NG_015806.1:g.16295G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*109G>C MANE Select ENSP00000264079.5:n.*109G>C
ENST00000264079.10:c.*109G>C ENSP00000264079.5:n.*109G>C
ENST00000394321.9:n.2167G>C
ENST00000599334.1:c.580G>C
ENST00000601870.1:c.169+36G>C
ENST00000602227.1:n.406G>C
NM_020533.2:c.*109G>C NP_065394.1:n.*109G>C
NM_020533.3:c.*109G>C MANE Select NP_065394.1:n.*109G>C
Search 100 bp 5'
Search 100 bp 3'