Canonical Allele Identifier: CA2320962711

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7528250C= , CM000681.2:g.7528250C=	GRCh38
NC_000019.9:g.7593136C= , CM000681.1:g.7593136C=	GRCh37
NC_000019.8:g.7499136C=	NCBI36
NG_015806.1:g.10641C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.870C= MANE Select	ENSP00000264079.5:p.Phe290=
ENST00000264079.10:c.870C=	ENSP00000264079.5:p.Phe290=
ENST00000394321.9:n.1185C=
NM_020533.2:c.870C=	NP_065394.1:p.Phe290=
NM_020533.3:c.870C= MANE Select	NP_065394.1:p.Phe290=