Canonical Allele Identifier: CA2320965634
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533927C= , CM000681.2:g.7533927C= GRCh38
NC_000019.9:g.7598813C= , CM000681.1:g.7598813C= GRCh37
NC_000019.8:g.7504813C= NCBI36
NG_013374.1:g.4776C=
NG_015806.1:g.16318C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*132C= MANE Select ENSP00000264079.5:n.*132C=
ENST00000264079.10:c.*132C= ENSP00000264079.5:n.*132C=
ENST00000394321.9:n.2190C=
ENST00000599334.1:c.603C=
ENST00000601870.1:c.169+59C=
ENST00000602227.1:n.429C=
NM_020533.2:c.*132C= NP_065394.1:n.*132C=
NM_020533.3:c.*132C= MANE Select NP_065394.1:n.*132C=
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