Canonical Allele Identifier: CA2320963174

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529191C= , CM000681.2:g.7529191C=	GRCh38
NC_000019.9:g.7594077C= , CM000681.1:g.7594077C=	GRCh37
NC_000019.8:g.7500077C=	NCBI36
NG_013374.1:g.40C=
NG_015806.1:g.11582C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1225C= MANE Select	ENSP00000264079.5:p.His409=
ENST00000264079.10:c.1225C=	ENSP00000264079.5:p.His409=
ENST00000394321.9:n.1540C=
ENST00000594692.1:n.221C=
ENST00000595860.5:n.408C=
ENST00000599334.1:c.102C=
NM_020533.2:c.1225C=	NP_065394.1:p.His409=
NM_020533.3:c.1225C= MANE Select	NP_065394.1:p.His409=