Canonical Allele Identifier: CA403083709
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7527870-C-A
MyVariant Identifiers: chr19:g.7592756C>A (hg19) chr19:g.7527870C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527870C>A , CM000681.2:g.7527870C>A GRCh38
NC_000019.9:g.7592756C>A , CM000681.1:g.7592756C>A GRCh37
NC_000019.8:g.7498756C>A NCBI36
NG_015806.1:g.10261C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.687C>A MANE Select ENSP00000264079.5:p.Val229=
ENST00000264079.10:c.687C>A ENSP00000264079.5:p.Val229=
ENST00000394321.9:n.1002C>A
ENST00000601003.1:c.578C>A ENSP00000469074.1:p.Ser193Ter
NM_020533.2:c.687C>A NP_065394.1:p.Val229=
NM_020533.3:c.687C>A MANE Select NP_065394.1:p.Val229=
Search 100 bp 5'
Search 100 bp 3'