Canonical Allele Identifier: CA2320962351

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527533G= , CM000681.2:g.7527533G=	GRCh38
NC_000019.9:g.7592419G= , CM000681.1:g.7592419G=	GRCh37
NC_000019.8:g.7498419G=	NCBI36
NG_015806.1:g.9924G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.585G= MANE Select	ENSP00000264079.5:p.Val195=
ENST00000264079.10:c.585G=	ENSP00000264079.5:p.Val195=
ENST00000394321.9:n.665G=
ENST00000598406.1:n.406G=
ENST00000601003.1:c.572-331G=	ENSP00000469074.1:n.572-331G=
NM_020533.2:c.585G=	NP_065394.1:p.Val195=
NM_020533.3:c.585G= MANE Select	NP_065394.1:p.Val195=