Canonical Allele Identifier: CA304853489
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs976418306
gnomAD v4: 19-7527687-T-C
MyVariant Identifiers: chr19:g.7592573T>C (hg19) chr19:g.7527687T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527687T>C , CM000681.2:g.7527687T>C GRCh38
NC_000019.9:g.7592573T>C , CM000681.1:g.7592573T>C GRCh37
NC_000019.8:g.7498573T>C NCBI36
NG_015806.1:g.10078T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.680+59T>C MANE Select ENSP00000264079.5:n.680+59T>C
ENST00000264079.10:c.680+59T>C ENSP00000264079.5:n.680+59T>C
ENST00000394321.9:n.819T>C
ENST00000598406.1:n.560T>C
ENST00000601003.1:c.572-177T>C ENSP00000469074.1:n.572-177T>C
NM_020533.2:c.680+59T>C NP_065394.1:n.680+59T>C
NM_020533.3:c.680+59T>C MANE Select NP_065394.1:n.680+59T>C
Search 100 bp 5'
Search 100 bp 3'