Canonical Allele Identifier: CA2813476150
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533907C>A , CM000681.2:g.7533907C>A GRCh38
NC_000019.9:g.7598793C>A , CM000681.1:g.7598793C>A GRCh37
NC_000019.8:g.7504793C>A NCBI36
NG_013374.1:g.4756C>A
NG_015806.1:g.16298C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*112C>A MANE Select ENSP00000264079.5:n.*112C>A
ENST00000264079.10:c.*112C>A ENSP00000264079.5:n.*112C>A
ENST00000394321.9:n.2170C>A
ENST00000599334.1:c.583C>A
ENST00000601870.1:c.169+39C>A
ENST00000602227.1:n.409C>A
NM_020533.2:c.*112C>A NP_065394.1:n.*112C>A
NM_020533.3:c.*112C>A MANE Select NP_065394.1:n.*112C>A
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