Canonical Allele Identifier: CA2320965209
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533503C= , CM000681.2:g.7533503C= GRCh38
NC_000019.9:g.7598389C= , CM000681.1:g.7598389C= GRCh37
NC_000019.8:g.7504389C= NCBI36
NG_013374.1:g.4352C=
NG_015806.1:g.15894C=

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1576-20C= MANE Select ENSP00000264079.5:n.1576-20C=
ENST00000264079.10:c.1576-20C= ENSP00000264079.5:n.1576-20C=
ENST00000394321.9:n.1891-20C=
ENST00000599334.1:c.304-20C=
ENST00000602227.1:n.110C=
NM_020533.2:c.1576-20C= NP_065394.1:n.1576-20C=
NM_020533.3:c.1576-20C= MANE Select NP_065394.1:n.1576-20C=
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