Canonical Allele Identifier: CA2739637780

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527671A>T , CM000681.2:g.7527671A>T	GRCh38
NC_000019.9:g.7592557A>T , CM000681.1:g.7592557A>T	GRCh37
NC_000019.8:g.7498557A>T	NCBI36
NG_015806.1:g.10062A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.680+43A>T MANE Select	ENSP00000264079.5:n.680+43A>T
ENST00000264079.10:c.680+43A>T	ENSP00000264079.5:n.680+43A>T
ENST00000394321.9:n.803A>T
ENST00000598406.1:n.544A>T
ENST00000601003.1:c.572-193A>T	ENSP00000469074.1:n.572-193A>T
NM_020533.2:c.680+43A>T	NP_065394.1:n.680+43A>T
NM_020533.3:c.680+43A>T MANE Select	NP_065394.1:n.680+43A>T