Canonical Allele Identifier: CA2320962712

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7528251C= , CM000681.2:g.7528251C=	GRCh38
NC_000019.9:g.7593137C= , CM000681.1:g.7593137C=	GRCh37
NC_000019.8:g.7499137C=	NCBI36
NG_015806.1:g.10642C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.871C= MANE Select	ENSP00000264079.5:p.Gln291=
ENST00000264079.10:c.871C=	ENSP00000264079.5:p.Gln291=
ENST00000394321.9:n.1186C=
NM_020533.2:c.871C=	NP_065394.1:p.Gln291=
NM_020533.3:c.871C= MANE Select	NP_065394.1:p.Gln291=