Canonical Allele Identifier: CA403084167
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7527931-A-G
MyVariant Identifiers: chr19:g.7592817A>G (hg19) chr19:g.7527931A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527931A>G , CM000681.2:g.7527931A>G GRCh38
NC_000019.9:g.7592817A>G , CM000681.1:g.7592817A>G GRCh37
NC_000019.8:g.7498817A>G NCBI36
NG_015806.1:g.10322A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.748A>G MANE Select ENSP00000264079.5:p.Ile250Val
ENST00000264079.10:c.748A>G ENSP00000264079.5:p.Ile250Val
ENST00000394321.9:n.1063A>G
NM_020533.2:c.748A>G NP_065394.1:p.Ile250Val
NM_020533.3:c.748A>G MANE Select NP_065394.1:p.Ile250Val
Search 100 bp 5'
Search 100 bp 3'