Canonical Allele Identifier: CA2320963043

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7528919C= , CM000681.2:g.7528919C=	GRCh38
NC_000019.9:g.7593805C= , CM000681.1:g.7593805C=	GRCh37
NC_000019.8:g.7499805C=	NCBI36
NG_015806.1:g.11310C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1083C= MANE Select	ENSP00000264079.5:p.Ser361=
ENST00000264079.10:c.1083C=	ENSP00000264079.5:p.Ser361=
ENST00000394321.9:n.1398C=
ENST00000595860.5:n.266C=
NM_020533.2:c.1083C=	NP_065394.1:p.Ser361=
NM_020533.3:c.1083C= MANE Select	NP_065394.1:p.Ser361=