Canonical Allele Identifier: CA2739637784

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527675C>G , CM000681.2:g.7527675C>G	GRCh38
NC_000019.9:g.7592561C>G , CM000681.1:g.7592561C>G	GRCh37
NC_000019.8:g.7498561C>G	NCBI36
NG_015806.1:g.10066C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.680+47C>G MANE Select	ENSP00000264079.5:n.680+47C>G
ENST00000264079.10:c.680+47C>G	ENSP00000264079.5:n.680+47C>G
ENST00000394321.9:n.807C>G
ENST00000598406.1:n.548C>G
ENST00000601003.1:c.572-189C>G	ENSP00000469074.1:n.572-189C>G
NM_020533.2:c.680+47C>G	NP_065394.1:n.680+47C>G
NM_020533.3:c.680+47C>G MANE Select	NP_065394.1:n.680+47C>G