Canonical Allele Identifier: CA2576597204
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533664C>A , CM000681.2:g.7533664C>A GRCh38
NC_000019.9:g.7598550C>A , CM000681.1:g.7598550C>A GRCh37
NC_000019.8:g.7504550C>A NCBI36
NG_013374.1:g.4513C>A
NG_015806.1:g.16055C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1706+11C>A MANE Select ENSP00000264079.5:n.1706+11C>A
ENST00000264079.10:c.1706+11C>A ENSP00000264079.5:n.1706+11C>A
ENST00000394321.9:n.2021+11C>A
ENST00000599334.1:c.434+11C>A
ENST00000601870.1:c.59+11C>A
ENST00000602227.1:n.260+11C>A
NM_020533.2:c.1706+11C>A NP_065394.1:n.1706+11C>A
NM_020533.3:c.1706+11C>A MANE Select NP_065394.1:n.1706+11C>A
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