Canonical Allele Identifier: CA403089834
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7595289T>A (hg19) chr19:g.7530403T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530403T>A , CM000681.2:g.7530403T>A GRCh38
NC_000019.9:g.7595289T>A , CM000681.1:g.7595289T>A GRCh37
NC_000019.8:g.7501289T>A NCBI36
NG_013374.1:g.1252T>A
NG_015806.1:g.12794T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1477T>A MANE Select ENSP00000264079.5:p.Phe493Ile
ENST00000264079.10:c.1477T>A ENSP00000264079.5:p.Phe493Ile
ENST00000394321.9:n.1792T>A
ENST00000595860.5:n.660T>A
ENST00000599334.1:c.237-32T>A
NM_020533.2:c.1477T>A NP_065394.1:p.Phe493Ile
NM_020533.3:c.1477T>A MANE Select NP_065394.1:p.Phe493Ile
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