Canonical Allele Identifier: CA2320962942

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7528714T= , CM000681.2:g.7528714T=	GRCh38
NC_000019.9:g.7593600T= , CM000681.1:g.7593600T=	GRCh37
NC_000019.8:g.7499600T=	NCBI36
NG_015806.1:g.11105T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.984+11T= MANE Select	ENSP00000264079.5:n.984+11T=
ENST00000264079.10:c.984+11T=	ENSP00000264079.5:n.984+11T=
ENST00000394321.9:n.1299+11T=
ENST00000595860.5:n.61T=
NM_020533.2:c.984+11T=	NP_065394.1:n.984+11T=
NM_020533.3:c.984+11T= MANE Select	NP_065394.1:n.984+11T=