Canonical Allele Identifier: CA2739637811

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527697A>G , CM000681.2:g.7527697A>G	GRCh38
NC_000019.9:g.7592583A>G , CM000681.1:g.7592583A>G	GRCh37
NC_000019.8:g.7498583A>G	NCBI36
NG_015806.1:g.10088A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264079.11:c.680+69A>G MANE Select	ENSP00000264079.5:n.680+69A>G
ENST00000264079.10:c.680+69A>G	ENSP00000264079.5:n.680+69A>G
ENST00000394321.9:n.829A>G
ENST00000598406.1:n.570A>G
ENST00000601003.1:c.572-167A>G	ENSP00000469074.1:n.572-167A>G
NM_020533.2:c.680+69A>G	NP_065394.1:n.680+69A>G
NM_020533.3:c.680+69A>G MANE Select	NP_065394.1:n.680+69A>G