Canonical Allele Identifier: CA2320962559

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527888C= , CM000681.2:g.7527888C=	GRCh38
NC_000019.9:g.7592774C= , CM000681.1:g.7592774C=	GRCh37
NC_000019.8:g.7498774C=	NCBI36
NG_015806.1:g.10279C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.705C= MANE Select	ENSP00000264079.5:p.Phe235=
ENST00000264079.10:c.705C=	ENSP00000264079.5:p.Phe235=
ENST00000394321.9:n.1020C=
ENST00000601003.1:c.596C=	ENSP00000469074.1:p.Ser199=
NM_020533.2:c.705C=	NP_065394.1:p.Phe235=
NM_020533.3:c.705C= MANE Select	NP_065394.1:p.Phe235=