Canonical Allele Identifier: CA505231318
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1206809630
gnomAD v3: 19-7528631-G-A
gnomAD v4: 19-7528631-G-A
MyVariant Identifiers: chr19:g.7593517G>A (hg19) chr19:g.7528631G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528631G>A , CM000681.2:g.7528631G>A GRCh38
NC_000019.9:g.7593517G>A , CM000681.1:g.7593517G>A GRCh37
NC_000019.8:g.7499517G>A NCBI36
NG_015806.1:g.11022G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.912G>A MANE Select ENSP00000264079.5:p.Val304=
ENST00000264079.10:c.912G>A ENSP00000264079.5:p.Val304=
ENST00000394321.9:n.1227G>A
NM_020533.2:c.912G>A NP_065394.1:p.Val304=
NM_020533.3:c.912G>A MANE Select NP_065394.1:p.Val304=
Search 100 bp 5'
Search 100 bp 3'