Canonical Allele Identifier: CA2320965551
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533798C= , CM000681.2:g.7533798C= GRCh38
NC_000019.9:g.7598684C= , CM000681.1:g.7598684C= GRCh37
NC_000019.8:g.7504684C= NCBI36
NG_013374.1:g.4647C=
NG_015806.1:g.16189C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*3C= MANE Select ENSP00000264079.5:n.*3C=
ENST00000264079.10:c.*3C= ENSP00000264079.5:n.*3C=
ENST00000394321.9:n.2061C=
ENST00000599334.1:c.474C=
ENST00000601870.1:c.99C=
ENST00000602227.1:n.300C=
NM_020533.2:c.*3C= NP_065394.1:n.*3C=
NM_020533.3:c.*3C= MANE Select NP_065394.1:n.*3C=
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Search 100 bp 3'