Canonical Allele Identifier: CA2320963632
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530036G= , CM000681.2:g.7530036G= GRCh38
NC_000019.9:g.7594922G= , CM000681.1:g.7594922G= GRCh37
NC_000019.8:g.7500922G= NCBI36
NG_013374.1:g.885G=
NG_015806.1:g.12427G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1360-250G= MANE Select ENSP00000264079.5:n.1360-250G=
ENST00000264079.10:c.1360-250G= ENSP00000264079.5:n.1360-250G=
ENST00000394321.9:n.1675-250G=
ENST00000594692.1:n.356-250G=
ENST00000595860.5:n.543-250G=
ENST00000599334.1:c.236+324G=
NM_020533.2:c.1360-250G= NP_065394.1:n.1360-250G=
NM_020533.3:c.1360-250G= MANE Select NP_065394.1:n.1360-250G=
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