Canonical Allele Identifier: CA2320961119

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7524953T= , CM000681.2:g.7524953T=	GRCh38
NC_000019.9:g.7589839T= , CM000681.1:g.7589839T=	GRCh37
NC_000019.8:g.7495839T=	NCBI36
NG_015806.1:g.7344T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.32-8T= MANE Select	ENSP00000264079.5:n.32-8T=
ENST00000264079.10:c.32-8T=	ENSP00000264079.5:n.32-8T=
ENST00000394321.9:n.112-8T=
ENST00000596390.1:n.148-8T=
ENST00000601003.1:c.32-8T=	ENSP00000469074.1:n.32-8T=
NM_020533.2:c.32-8T=	NP_065394.1:n.32-8T=
XR_936293.1:n.2A=
XR_936294.1:n.2A=
XR_936295.1:n.2A=
XR_936293.2:n.28A=
XR_936294.2:n.28A=
NM_020533.3:c.32-8T= MANE Select	NP_065394.1:n.32-8T=