Canonical Allele Identifier: CA9139270
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs761849827
ExAC: 19:7598734 C / G
gnomAD v2: 19-7598734-C-G
gnomAD v4: 19-7533848-C-G
MyVariant Identifiers: chr19:g.7598734C>G (hg19) chr19:g.7533848C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533848C>G , CM000681.2:g.7533848C>G GRCh38
NC_000019.9:g.7598734C>G , CM000681.1:g.7598734C>G GRCh37
NC_000019.8:g.7504734C>G NCBI36
NG_013374.1:g.4697C>G
NG_015806.1:g.16239C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*53C>G MANE Select ENSP00000264079.5:n.*53C>G
ENST00000264079.10:c.*53C>G ENSP00000264079.5:n.*53C>G
ENST00000394321.9:n.2111C>G
ENST00000599334.1:c.524C>G
ENST00000601870.1:c.149C>G
ENST00000602227.1:n.350C>G
NM_020533.2:c.*53C>G NP_065394.1:n.*53C>G
NM_020533.3:c.*53C>G MANE Select NP_065394.1:n.*53C>G
Search 100 bp 5'
Search 100 bp 3'