Canonical Allele Identifier: CA304856761
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs777364051
gnomAD v3: 19-7533206-G-A
gnomAD v4: 19-7533206-G-A
MyVariant Identifiers: chr19:g.7598092G>A (hg19) chr19:g.7533206G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533206G>A , CM000681.2:g.7533206G>A GRCh38
NC_000019.9:g.7598092G>A , CM000681.1:g.7598092G>A GRCh37
NC_000019.8:g.7504092G>A NCBI36
NG_013374.1:g.4055G>A
NG_015806.1:g.15597G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1576-317G>A MANE Select ENSP00000264079.5:n.1576-317G>A
ENST00000264079.10:c.1576-317G>A ENSP00000264079.5:n.1576-317G>A
ENST00000394321.9:n.1891-317G>A
ENST00000599334.1:c.304-317G>A
NM_020533.2:c.1576-317G>A NP_065394.1:n.1576-317G>A
NM_020533.3:c.1576-317G>A MANE Select NP_065394.1:n.1576-317G>A
Search 100 bp 5'
Search 100 bp 3'