Canonical Allele Identifier: CA2320961160

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7525163G= , CM000681.2:g.7525163G=	GRCh38
NC_000019.9:g.7590049G= , CM000681.1:g.7590049G=	GRCh37
NC_000019.8:g.7496049G=	NCBI36
NG_015806.1:g.7554G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.234G= MANE Select	ENSP00000264079.5:p.Val78=
ENST00000264079.10:c.234G=	ENSP00000264079.5:p.Val78=
ENST00000394321.9:n.314G=
ENST00000596390.1:n.350G=
ENST00000601003.1:c.234G=	ENSP00000469074.1:p.Val78=
NM_020533.2:c.234G=	NP_065394.1:p.Val78=
NM_020533.3:c.234G= MANE Select	NP_065394.1:p.Val78=