Canonical Allele Identifier: CA2739637991

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527845A>T , CM000681.2:g.7527845A>T	GRCh38
NC_000019.9:g.7592731A>T , CM000681.1:g.7592731A>T	GRCh37
NC_000019.8:g.7498731A>T	NCBI36
NG_015806.1:g.10236A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.681-19A>T MANE Select	ENSP00000264079.5:n.681-19A>T
ENST00000264079.10:c.681-19A>T	ENSP00000264079.5:n.681-19A>T
ENST00000394321.9:n.977A>T
ENST00000601003.1:c.572-19A>T	ENSP00000469074.1:n.572-19A>T
NM_020533.2:c.681-19A>T	NP_065394.1:n.681-19A>T
NM_020533.3:c.681-19A>T MANE Select	NP_065394.1:n.681-19A>T