Canonical Allele Identifier: CA2320962359

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527543G= , CM000681.2:g.7527543G=	GRCh38
NC_000019.9:g.7592429G= , CM000681.1:g.7592429G=	GRCh37
NC_000019.8:g.7498429G=	NCBI36
NG_015806.1:g.9934G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.595G= MANE Select	ENSP00000264079.5:p.Glu199=
ENST00000264079.10:c.595G=	ENSP00000264079.5:p.Glu199=
ENST00000394321.9:n.675G=
ENST00000598406.1:n.416G=
ENST00000601003.1:c.572-321G=	ENSP00000469074.1:n.572-321G=
NM_020533.2:c.595G=	NP_065394.1:p.Glu199=
NM_020533.3:c.595G= MANE Select	NP_065394.1:p.Glu199=