Canonical Allele Identifier: CA2320962780

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7528384C= , CM000681.2:g.7528384C=	GRCh38
NC_000019.9:g.7593270C= , CM000681.1:g.7593270C=	GRCh37
NC_000019.8:g.7499270C=	NCBI36
NG_015806.1:g.10775C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.877+127C= MANE Select	ENSP00000264079.5:n.877+127C=
ENST00000264079.10:c.877+127C=	ENSP00000264079.5:n.877+127C=
ENST00000394321.9:n.1192+127C=
NM_020533.2:c.877+127C=	NP_065394.1:n.877+127C=
NM_020533.3:c.877+127C= MANE Select	NP_065394.1:n.877+127C=