Canonical Allele Identifier: CA2320962378

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527569C= , CM000681.2:g.7527569C=	GRCh38
NC_000019.9:g.7592455C= , CM000681.1:g.7592455C=	GRCh37
NC_000019.8:g.7498455C=	NCBI36
NG_015806.1:g.9960C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.621C= MANE Select	ENSP00000264079.5:p.Asp207=
ENST00000264079.10:c.621C=	ENSP00000264079.5:p.Asp207=
ENST00000394321.9:n.701C=
ENST00000598406.1:n.442C=
ENST00000601003.1:c.572-295C=	ENSP00000469074.1:n.572-295C=
NM_020533.2:c.621C=	NP_065394.1:p.Asp207=
NM_020533.3:c.621C= MANE Select	NP_065394.1:p.Asp207=