Canonical Allele Identifier: CA2320961169
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525174C= , CM000681.2:g.7525174C= GRCh38
NC_000019.9:g.7590060C= , CM000681.1:g.7590060C= GRCh37
NC_000019.8:g.7496060C= NCBI36
NG_015806.1:g.7565C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.237+8C= MANE Select ENSP00000264079.5:n.237+8C=
ENST00000264079.10:c.237+8C= ENSP00000264079.5:n.237+8C=
ENST00000394321.9:n.317+8C=
ENST00000596390.1:n.361C=
ENST00000601003.1:c.237+8C= ENSP00000469074.1:n.237+8C=
NM_020533.2:c.237+8C= NP_065394.1:n.237+8C=
NM_020533.3:c.237+8C= MANE Select NP_065394.1:n.237+8C=
Search 100 bp 5'
Search 100 bp 3'