Canonical Allele Identifier: CA2320965560
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533810C= , CM000681.2:g.7533810C= GRCh38
NC_000019.9:g.7598696C= , CM000681.1:g.7598696C= GRCh37
NC_000019.8:g.7504696C= NCBI36
NG_013374.1:g.4659C=
NG_015806.1:g.16201C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*15C= MANE Select ENSP00000264079.5:n.*15C=
ENST00000264079.10:c.*15C= ENSP00000264079.5:n.*15C=
ENST00000394321.9:n.2073C=
ENST00000599334.1:c.486C=
ENST00000601870.1:c.111C=
ENST00000602227.1:n.312C=
NM_020533.2:c.*15C= NP_065394.1:n.*15C=
NM_020533.3:c.*15C= MANE Select NP_065394.1:n.*15C=
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