Canonical Allele Identifier: CA2320963176

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529201A= , CM000681.2:g.7529201A=	GRCh38
NC_000019.9:g.7594087A= , CM000681.1:g.7594087A=	GRCh37
NC_000019.8:g.7500087A=	NCBI36
NG_013374.1:g.50A=
NG_015806.1:g.11592A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1235A= MANE Select	ENSP00000264079.5:p.Asn412=
ENST00000264079.10:c.1235A=	ENSP00000264079.5:p.Asn412=
ENST00000394321.9:n.1550A=
ENST00000594692.1:n.231A=
ENST00000595860.5:n.418A=
ENST00000599334.1:c.112A=
NM_020533.2:c.1235A=	NP_065394.1:p.Asn412=
NM_020533.3:c.1235A= MANE Select	NP_065394.1:p.Asn412=