Canonical Allele Identifier: CA505231001
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7528214-G-A
MyVariant Identifiers: chr19:g.7593100G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528214G>A , CM000681.2:g.7528214G>A GRCh38
NC_000019.9:g.7593100G>A , CM000681.1:g.7593100G>A GRCh37
NC_000019.8:g.7499100G>A NCBI36
NG_015806.1:g.10605G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.834G>A MANE Select ENSP00000264079.5:p.Gln278=
ENST00000264079.10:c.834G>A ENSP00000264079.5:p.Gln278=
ENST00000394321.9:n.1149G>A
NM_020533.2:c.834G>A NP_065394.1:p.Gln278=
NM_020533.3:c.834G>A MANE Select NP_065394.1:p.Gln278=
Search 100 bp 5'
Search 100 bp 3'