Canonical Allele Identifier: CA403083817
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7592767T>C (hg19) chr19:g.7527881T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527881T>C , CM000681.2:g.7527881T>C GRCh38
NC_000019.9:g.7592767T>C , CM000681.1:g.7592767T>C GRCh37
NC_000019.8:g.7498767T>C NCBI36
NG_015806.1:g.10272T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.698T>C MANE Select ENSP00000264079.5:p.Ile233Thr
ENST00000264079.10:c.698T>C ENSP00000264079.5:p.Ile233Thr
ENST00000394321.9:n.1013T>C
ENST00000601003.1:c.589T>C ENSP00000469074.1:p.Ser197Pro
NM_020533.2:c.698T>C NP_065394.1:p.Ile233Thr
NM_020533.3:c.698T>C MANE Select NP_065394.1:p.Ile233Thr
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Search 100 bp 3'