Canonical Allele Identifier: CA2320962379

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527570G= , CM000681.2:g.7527570G=	GRCh38
NC_000019.9:g.7592456G= , CM000681.1:g.7592456G=	GRCh37
NC_000019.8:g.7498456G=	NCBI36
NG_015806.1:g.9961G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.622G= MANE Select	ENSP00000264079.5:p.Asp208=
ENST00000264079.10:c.622G=	ENSP00000264079.5:p.Asp208=
ENST00000394321.9:n.702G=
ENST00000598406.1:n.443G=
ENST00000601003.1:c.572-294G=	ENSP00000469074.1:n.572-294G=
NM_020533.2:c.622G=	NP_065394.1:p.Asp208=
NM_020533.3:c.622G= MANE Select	NP_065394.1:p.Asp208=