Canonical Allele Identifier: CA2320962377

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527567G= , CM000681.2:g.7527567G=	GRCh38
NC_000019.9:g.7592453G= , CM000681.1:g.7592453G=	GRCh37
NC_000019.8:g.7498453G=	NCBI36
NG_015806.1:g.9958G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.619G= MANE Select	ENSP00000264079.5:p.Asp207=
ENST00000264079.10:c.619G=	ENSP00000264079.5:p.Asp207=
ENST00000394321.9:n.699G=
ENST00000598406.1:n.440G=
ENST00000601003.1:c.572-297G=	ENSP00000469074.1:n.572-297G=
NM_020533.2:c.619G=	NP_065394.1:p.Asp207=
NM_020533.3:c.619G= MANE Select	NP_065394.1:p.Asp207=