Canonical Allele Identifier: CA2320965556
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533806C= , CM000681.2:g.7533806C= GRCh38
NC_000019.9:g.7598692C= , CM000681.1:g.7598692C= GRCh37
NC_000019.8:g.7504692C= NCBI36
NG_013374.1:g.4655C=
NG_015806.1:g.16197C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*11C= MANE Select ENSP00000264079.5:n.*11C=
ENST00000264079.10:c.*11C= ENSP00000264079.5:n.*11C=
ENST00000394321.9:n.2069C=
ENST00000599334.1:c.482C=
ENST00000601870.1:c.107C=
ENST00000602227.1:n.308C=
NM_020533.2:c.*11C= NP_065394.1:n.*11C=
NM_020533.3:c.*11C= MANE Select NP_065394.1:n.*11C=
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