Canonical Allele Identifier: CA2320965206
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533499G= , CM000681.2:g.7533499G= GRCh38
NC_000019.9:g.7598385G= , CM000681.1:g.7598385G= GRCh37
NC_000019.8:g.7504385G= NCBI36
NG_013374.1:g.4348G=
NG_015806.1:g.15890G=

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1576-24G= MANE Select ENSP00000264079.5:n.1576-24G=
ENST00000264079.10:c.1576-24G= ENSP00000264079.5:n.1576-24G=
ENST00000394321.9:n.1891-24G=
ENST00000599334.1:c.304-24G=
ENST00000602227.1:n.106G=
NM_020533.2:c.1576-24G= NP_065394.1:n.1576-24G=
NM_020533.3:c.1576-24G= MANE Select NP_065394.1:n.1576-24G=
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