Canonical Allele Identifier: CA2320965470

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533651A= , CM000681.2:g.7533651A=	GRCh38
NC_000019.9:g.7598537A= , CM000681.1:g.7598537A=	GRCh37
NC_000019.8:g.7504537A=	NCBI36
NG_013374.1:g.4500A=
NG_015806.1:g.16042A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000264079.11:c.1704A= MANE Select	ENSP00000264079.5:p.Gly568=
ENST00000264079.10:c.1704A=	ENSP00000264079.5:p.Gly568=
ENST00000394321.9:n.2019A=
ENST00000599334.1:c.432A=
ENST00000601870.1:c.57A=
ENST00000602227.1:n.258A=
NM_020533.2:c.1704A=	NP_065394.1:p.Gly568=
NM_020533.3:c.1704A= MANE Select	NP_065394.1:p.Gly568=