Canonical Allele Identifier: CA2320965554
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533802C= , CM000681.2:g.7533802C= GRCh38
NC_000019.9:g.7598688C= , CM000681.1:g.7598688C= GRCh37
NC_000019.8:g.7504688C= NCBI36
NG_013374.1:g.4651C=
NG_015806.1:g.16193C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*7C= MANE Select ENSP00000264079.5:n.*7C=
ENST00000264079.10:c.*7C= ENSP00000264079.5:n.*7C=
ENST00000394321.9:n.2065C=
ENST00000599334.1:c.478C=
ENST00000601870.1:c.103C=
ENST00000602227.1:n.304C=
NM_020533.2:c.*7C= NP_065394.1:n.*7C=
NM_020533.3:c.*7C= MANE Select NP_065394.1:n.*7C=
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