Canonical Allele Identifier: CA2320962999

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7528838G= , CM000681.2:g.7528838G=	GRCh38
NC_000019.9:g.7593724G= , CM000681.1:g.7593724G=	GRCh37
NC_000019.8:g.7499724G=	NCBI36
NG_015806.1:g.11229G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000264079.11:c.1002G= MANE Select	ENSP00000264079.5:p.Met334=
ENST00000264079.10:c.1002G=	ENSP00000264079.5:p.Met334=
ENST00000394321.9:n.1317G=
ENST00000595860.5:n.185G=
NM_020533.2:c.1002G=	NP_065394.1:p.Met334=
NM_020533.3:c.1002G= MANE Select	NP_065394.1:p.Met334=