Canonical Allele Identifier: CA2320963040

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7528914A= , CM000681.2:g.7528914A=	GRCh38
NC_000019.9:g.7593800A= , CM000681.1:g.7593800A=	GRCh37
NC_000019.8:g.7499800A=	NCBI36
NG_015806.1:g.11305A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1078A= MANE Select	ENSP00000264079.5:p.Thr360=
ENST00000264079.10:c.1078A=	ENSP00000264079.5:p.Thr360=
ENST00000394321.9:n.1393A=
ENST00000595860.5:n.261A=
NM_020533.2:c.1078A=	NP_065394.1:p.Thr360=
NM_020533.3:c.1078A= MANE Select	NP_065394.1:p.Thr360=