Canonical Allele Identifier: CA403083646
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7527868-G-A
MyVariant Identifiers: chr19:g.7592754G>A (hg19) chr19:g.7527868G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527868G>A , CM000681.2:g.7527868G>A GRCh38
NC_000019.9:g.7592754G>A , CM000681.1:g.7592754G>A GRCh37
NC_000019.8:g.7498754G>A NCBI36
NG_015806.1:g.10259G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.685G>A MANE Select ENSP00000264079.5:p.Val229Ile
ENST00000264079.10:c.685G>A ENSP00000264079.5:p.Val229Ile
ENST00000394321.9:n.1000G>A
ENST00000601003.1:c.576G>A ENSP00000469074.1:p.Trp192Ter
NM_020533.2:c.685G>A NP_065394.1:p.Val229Ile
NM_020533.3:c.685G>A MANE Select NP_065394.1:p.Val229Ile
Search 100 bp 5'
Search 100 bp 3'