Canonical Allele Identifier: CA304853578
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs200756089
gnomAD v4: 19-7527751-G-A
MyVariant Identifiers: chr19:g.7592637G>A (hg19) chr19:g.7527751G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527751G>A , CM000681.2:g.7527751G>A GRCh38
NC_000019.9:g.7592637G>A , CM000681.1:g.7592637G>A GRCh37
NC_000019.8:g.7498637G>A NCBI36
NG_015806.1:g.10142G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.681-113G>A MANE Select ENSP00000264079.5:n.681-113G>A
ENST00000264079.10:c.681-113G>A ENSP00000264079.5:n.681-113G>A
ENST00000394321.9:n.883G>A
ENST00000598406.1:n.624G>A
ENST00000601003.1:c.572-113G>A ENSP00000469074.1:n.572-113G>A
NM_020533.2:c.681-113G>A NP_065394.1:n.681-113G>A
NM_020533.3:c.681-113G>A MANE Select NP_065394.1:n.681-113G>A
Search 100 bp 5'
Search 100 bp 3'