Canonical Allele Identifier: CA2320962550

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527868G= , CM000681.2:g.7527868G=	GRCh38
NC_000019.9:g.7592754G= , CM000681.1:g.7592754G=	GRCh37
NC_000019.8:g.7498754G=	NCBI36
NG_015806.1:g.10259G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.685G= MANE Select	ENSP00000264079.5:p.Val229=
ENST00000264079.10:c.685G=	ENSP00000264079.5:p.Val229=
ENST00000394321.9:n.1000G=
ENST00000601003.1:c.576G=	ENSP00000469074.1:p.Trp192=
NM_020533.2:c.685G=	NP_065394.1:p.Val229=
NM_020533.3:c.685G= MANE Select	NP_065394.1:p.Val229=