Canonical Allele Identifier: CA2320961012

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7524748C= , CM000681.2:g.7524748C=	GRCh38
NC_000019.9:g.7589634C= , CM000681.1:g.7589634C=	GRCh37
NC_000019.8:g.7495634C=	NCBI36
NG_015806.1:g.7139C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.32-213C= MANE Select	ENSP00000264079.5:n.32-213C=
ENST00000264079.10:c.32-213C=	ENSP00000264079.5:n.32-213C=
ENST00000394321.9:n.112-213C=
ENST00000596390.1:n.148-213C=
ENST00000601003.1:c.32-213C=	ENSP00000469074.1:n.32-213C=
NM_020533.2:c.32-213C=	NP_065394.1:n.32-213C=
XR_936293.1:n.207G=
XR_936294.1:n.207G=
XR_936295.1:n.154+53G=
XR_936293.2:n.233G=
XR_936294.2:n.233G=
NM_020533.3:c.32-213C= MANE Select	NP_065394.1:n.32-213C=