Canonical Allele Identifier: CA304853104
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs547601497
gnomAD v3: 19-7527229-G-A
gnomAD v4: 19-7527229-G-A
MyVariant Identifiers: chr19:g.7592115G>A (hg19) chr19:g.7527229G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527229G>A , CM000681.2:g.7527229G>A GRCh38
NC_000019.9:g.7592115G>A , CM000681.1:g.7592115G>A GRCh37
NC_000019.8:g.7498115G>A NCBI36
NG_015806.1:g.9620G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.572-291G>A MANE Select ENSP00000264079.5:n.572-291G>A
ENST00000264079.10:c.572-291G>A ENSP00000264079.5:n.572-291G>A
ENST00000394321.9:n.652-291G>A
ENST00000598406.1:n.393-291G>A
ENST00000601003.1:c.571+303G>A ENSP00000469074.1:n.571+303G>A
NM_020533.2:c.572-291G>A NP_065394.1:n.572-291G>A
NM_020533.3:c.572-291G>A MANE Select NP_065394.1:n.572-291G>A
Search 100 bp 5'
Search 100 bp 3'