Canonical Allele Identifier: CA2320965375

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533611G= , CM000681.2:g.7533611G=	GRCh38
NC_000019.9:g.7598497G= , CM000681.1:g.7598497G=	GRCh37
NC_000019.8:g.7504497G=	NCBI36
NG_013374.1:g.4460G=
NG_015806.1:g.16002G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1664G= MANE Select	ENSP00000264079.5:p.Arg555=
ENST00000264079.10:c.1664G=	ENSP00000264079.5:p.Arg555=
ENST00000394321.9:n.1979G=
ENST00000599334.1:c.392G=
ENST00000601870.1:c.17G=
ENST00000602227.1:n.218G=
NM_020533.2:c.1664G=	NP_065394.1:p.Arg555=
NM_020533.3:c.1664G= MANE Select	NP_065394.1:p.Arg555=