Canonical Allele Identifier: CA2320965216
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533510C= , CM000681.2:g.7533510C= GRCh38
NC_000019.9:g.7598396C= , CM000681.1:g.7598396C= GRCh37
NC_000019.8:g.7504396C= NCBI36
NG_013374.1:g.4359C=
NG_015806.1:g.15901C=

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1576-13C= MANE Select ENSP00000264079.5:n.1576-13C=
ENST00000264079.10:c.1576-13C= ENSP00000264079.5:n.1576-13C=
ENST00000394321.9:n.1891-13C=
ENST00000599334.1:c.304-13C=
ENST00000602227.1:n.117C=
NM_020533.2:c.1576-13C= NP_065394.1:n.1576-13C=
NM_020533.3:c.1576-13C= MANE Select NP_065394.1:n.1576-13C=
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