Canonical Allele Identifier: CA2320962906
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528631G= , CM000681.2:g.7528631G= GRCh38
NC_000019.9:g.7593517G= , CM000681.1:g.7593517G= GRCh37
NC_000019.8:g.7499517G= NCBI36
NG_015806.1:g.11022G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.912G= MANE Select ENSP00000264079.5:p.Val304=
ENST00000264079.10:c.912G= ENSP00000264079.5:p.Val304=
ENST00000394321.9:n.1227G=
NM_020533.2:c.912G= NP_065394.1:p.Val304=
NM_020533.3:c.912G= MANE Select NP_065394.1:p.Val304=
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