Canonical Allele Identifier: CA2813476116

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533747T>A , CM000681.2:g.7533747T>A	GRCh38
NC_000019.9:g.7598633T>A , CM000681.1:g.7598633T>A	GRCh37
NC_000019.8:g.7504633T>A	NCBI36
NG_013374.1:g.4596T>A
NG_015806.1:g.16138T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1707-12T>A MANE Select	ENSP00000264079.5:n.1707-12T>A
ENST00000264079.10:c.1707-12T>A	ENSP00000264079.5:n.1707-12T>A
ENST00000394321.9:n.2022-12T>A
ENST00000599334.1:c.435-12T>A
ENST00000601870.1:c.60-12T>A
ENST00000602227.1:n.261-12T>A
NM_020533.2:c.1707-12T>A	NP_065394.1:n.1707-12T>A
NM_020533.3:c.1707-12T>A MANE Select	NP_065394.1:n.1707-12T>A