Canonical Allele Identifier: CA2320962694
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528203C= , CM000681.2:g.7528203C= GRCh38
NC_000019.9:g.7593089C= , CM000681.1:g.7593089C= GRCh37
NC_000019.8:g.7499089C= NCBI36
NG_015806.1:g.10594C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.823C= MANE Select ENSP00000264079.5:p.Leu275=
ENST00000264079.10:c.823C= ENSP00000264079.5:p.Leu275=
ENST00000394321.9:n.1138C=
NM_020533.2:c.823C= NP_065394.1:p.Leu275=
NM_020533.3:c.823C= MANE Select NP_065394.1:p.Leu275=
Search 100 bp 5'
Search 100 bp 3'