Canonical Allele Identifier: CA2739638009

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527857T>C , CM000681.2:g.7527857T>C	GRCh38
NC_000019.9:g.7592743T>C , CM000681.1:g.7592743T>C	GRCh37
NC_000019.8:g.7498743T>C	NCBI36
NG_015806.1:g.10248T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.681-7T>C MANE Select	ENSP00000264079.5:n.681-7T>C
ENST00000264079.10:c.681-7T>C	ENSP00000264079.5:n.681-7T>C
ENST00000394321.9:n.989T>C
ENST00000601003.1:c.572-7T>C	ENSP00000469074.1:n.572-7T>C
NM_020533.2:c.681-7T>C	NP_065394.1:n.681-7T>C
NM_020533.3:c.681-7T>C MANE Select	NP_065394.1:n.681-7T>C