Canonical Allele Identifier: CA2320963674
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530100G= , CM000681.2:g.7530100G= GRCh38
NC_000019.9:g.7594986G= , CM000681.1:g.7594986G= GRCh37
NC_000019.8:g.7500986G= NCBI36
NG_013374.1:g.949G=
NG_015806.1:g.12491G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1360-186G= MANE Select ENSP00000264079.5:n.1360-186G=
ENST00000264079.10:c.1360-186G= ENSP00000264079.5:n.1360-186G=
ENST00000394321.9:n.1675-186G=
ENST00000594692.1:n.356-186G=
ENST00000595860.5:n.543-186G=
ENST00000599334.1:c.237-335G=
NM_020533.2:c.1360-186G= NP_065394.1:n.1360-186G=
NM_020533.3:c.1360-186G= MANE Select NP_065394.1:n.1360-186G=
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