Canonical Allele Identifier: CA2320961129

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7524978A= , CM000681.2:g.7524978A=	GRCh38
NC_000019.9:g.7589864A= , CM000681.1:g.7589864A=	GRCh37
NC_000019.8:g.7495864A=	NCBI36
NG_015806.1:g.7369A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.49A= MANE Select	ENSP00000264079.5:p.Thr17=
ENST00000264079.10:c.49A=	ENSP00000264079.5:p.Thr17=
ENST00000394321.9:n.129A=
ENST00000596390.1:n.165A=
ENST00000601003.1:c.49A=	ENSP00000469074.1:p.Thr17=
NM_020533.2:c.49A=	NP_065394.1:p.Thr17=
XR_936293.2:n.3T=
XR_936294.2:n.3T=
NM_020533.3:c.49A= MANE Select	NP_065394.1:p.Thr17=