Canonical Allele Identifier: CA2739637817

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527700T>G , CM000681.2:g.7527700T>G	GRCh38
NC_000019.9:g.7592586T>G , CM000681.1:g.7592586T>G	GRCh37
NC_000019.8:g.7498586T>G	NCBI36
NG_015806.1:g.10091T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264079.11:c.680+72T>G MANE Select	ENSP00000264079.5:n.680+72T>G
ENST00000264079.10:c.680+72T>G	ENSP00000264079.5:n.680+72T>G
ENST00000394321.9:n.832T>G
ENST00000598406.1:n.573T>G
ENST00000601003.1:c.572-164T>G	ENSP00000469074.1:n.572-164T>G
NM_020533.2:c.680+72T>G	NP_065394.1:n.680+72T>G
NM_020533.3:c.680+72T>G MANE Select	NP_065394.1:n.680+72T>G