Canonical Allele Identifier: CA2320962347

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527526T= , CM000681.2:g.7527526T=	GRCh38
NC_000019.9:g.7592412T= , CM000681.1:g.7592412T=	GRCh37
NC_000019.8:g.7498412T=	NCBI36
NG_015806.1:g.9917T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.578T= MANE Select	ENSP00000264079.5:p.Ile193=
ENST00000264079.10:c.578T=	ENSP00000264079.5:p.Ile193=
ENST00000394321.9:n.658T=
ENST00000598406.1:n.399T=
ENST00000601003.1:c.572-338T=	ENSP00000469074.1:n.572-338T=
NM_020533.2:c.578T=	NP_065394.1:p.Ile193=
NM_020533.3:c.578T= MANE Select	NP_065394.1:p.Ile193=