Canonical Allele Identifier: CA2320963656
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530070C= , CM000681.2:g.7530070C= GRCh38
NC_000019.9:g.7594956C= , CM000681.1:g.7594956C= GRCh37
NC_000019.8:g.7500956C= NCBI36
NG_013374.1:g.919C=
NG_015806.1:g.12461C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1360-216C= MANE Select ENSP00000264079.5:n.1360-216C=
ENST00000264079.10:c.1360-216C= ENSP00000264079.5:n.1360-216C=
ENST00000394321.9:n.1675-216C=
ENST00000594692.1:n.356-216C=
ENST00000595860.5:n.543-216C=
ENST00000599334.1:c.236+358C=
NM_020533.2:c.1360-216C= NP_065394.1:n.1360-216C=
NM_020533.3:c.1360-216C= MANE Select NP_065394.1:n.1360-216C=
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