Canonical Allele Identifier: CA2576596903

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7526340T>G , CM000681.2:g.7526340T>G	GRCh38
NC_000019.9:g.7591226T>G , CM000681.1:g.7591226T>G	GRCh37
NC_000019.8:g.7497226T>G	NCBI36
NG_015806.1:g.8731T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.238-99T>G MANE Select	ENSP00000264079.5:n.238-99T>G
ENST00000264079.10:c.238-99T>G	ENSP00000264079.5:n.238-99T>G
ENST00000394321.9:n.318-99T>G
ENST00000596008.1:n.101T>G
ENST00000601003.1:c.238-99T>G	ENSP00000469074.1:n.238-99T>G
NM_020533.2:c.238-99T>G	NP_065394.1:n.238-99T>G
NM_020533.3:c.238-99T>G MANE Select	NP_065394.1:n.238-99T>G