Canonical Allele Identifier: CA2576597033

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7528073C>T , CM000681.2:g.7528073C>T	GRCh38
NC_000019.9:g.7592959C>T , CM000681.1:g.7592959C>T	GRCh37
NC_000019.8:g.7498959C>T	NCBI36
NG_015806.1:g.10464C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264079.11:c.778-85C>T MANE Select	ENSP00000264079.5:n.778-85C>T
ENST00000264079.10:c.778-85C>T	ENSP00000264079.5:n.778-85C>T
ENST00000394321.9:n.1093-85C>T
NM_020533.2:c.778-85C>T	NP_065394.1:n.778-85C>T
NM_020533.3:c.778-85C>T MANE Select	NP_065394.1:n.778-85C>T