Canonical Allele Identifier: CA2587948655

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7528376-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7528376C>T , CM000681.2:g.7528376C>T	GRCh38
NC_000019.9:g.7593262C>T , CM000681.1:g.7593262C>T	GRCh37
NC_000019.8:g.7499262C>T	NCBI36
NG_015806.1:g.10767C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.877+119C>T MANE Select	ENSP00000264079.5:n.877+119C>T
ENST00000264079.10:c.877+119C>T	ENSP00000264079.5:n.877+119C>T
ENST00000394321.9:n.1192+119C>T
NM_020533.2:c.877+119C>T	NP_065394.1:n.877+119C>T
NM_020533.3:c.877+119C>T MANE Select	NP_065394.1:n.877+119C>T