Canonical Allele Identifier: CA2320962483
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527747G= , CM000681.2:g.7527747G= GRCh38
NC_000019.9:g.7592633G= , CM000681.1:g.7592633G= GRCh37
NC_000019.8:g.7498633G= NCBI36
NG_015806.1:g.10138G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.681-117G= MANE Select ENSP00000264079.5:n.681-117G=
ENST00000264079.10:c.681-117G= ENSP00000264079.5:n.681-117G=
ENST00000394321.9:n.879G=
ENST00000598406.1:n.620G=
ENST00000601003.1:c.572-117G= ENSP00000469074.1:n.572-117G=
NM_020533.2:c.681-117G= NP_065394.1:n.681-117G=
NM_020533.3:c.681-117G= MANE Select NP_065394.1:n.681-117G=
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