Canonical Allele Identifier: CA2813476143

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533866T>G , CM000681.2:g.7533866T>G	GRCh38
NC_000019.9:g.7598752T>G , CM000681.1:g.7598752T>G	GRCh37
NC_000019.8:g.7504752T>G	NCBI36
NG_013374.1:g.4715T>G
NG_015806.1:g.16257T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.*71T>G MANE Select	ENSP00000264079.5:n.*71T>G
ENST00000264079.10:c.*71T>G	ENSP00000264079.5:n.*71T>G
ENST00000394321.9:n.2129T>G
ENST00000599334.1:c.542T>G
ENST00000601870.1:c.167T>G
ENST00000602227.1:n.368T>G
NM_020533.2:c.*71T>G	NP_065394.1:n.*71T>G
NM_020533.3:c.*71T>G MANE Select	NP_065394.1:n.*71T>G