Canonical Allele Identifier: CA505231717
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7529601-C-G
MyVariant Identifiers: chr19:g.7594487C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529601C>G , CM000681.2:g.7529601C>G GRCh38
NC_000019.9:g.7594487C>G , CM000681.1:g.7594487C>G GRCh37
NC_000019.8:g.7500487C>G NCBI36
NG_013374.1:g.450C>G
NG_015806.1:g.11992C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1248C>G MANE Select ENSP00000264079.5:p.Ala416=
ENST00000264079.10:c.1248C>G ENSP00000264079.5:p.Ala416=
ENST00000394321.9:n.1563C>G
ENST00000594692.1:n.244C>G
ENST00000595860.5:n.431C>G
ENST00000599334.1:c.125C>G
NM_020533.2:c.1248C>G NP_065394.1:p.Ala416=
NM_020533.3:c.1248C>G MANE Select NP_065394.1:p.Ala416=
Search 100 bp 5'
Search 100 bp 3'