Canonical Allele Identifier: CA2320962800

Gene: MCOLN1

Linked Data

• dbSNP Id: rs2022604045

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7528419C>T , CM000681.2:g.7528419C>T	GRCh38
NC_000019.9:g.7593305C>T , CM000681.1:g.7593305C>T	GRCh37
NC_000019.8:g.7499305C>T	NCBI36
NG_015806.1:g.10810C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.877+162C>T MANE Select	ENSP00000264079.5:n.877+162C>T
ENST00000264079.10:c.877+162C>T	ENSP00000264079.5:n.877+162C>T
ENST00000394321.9:n.1192+162C>T
NM_020533.2:c.877+162C>T	NP_065394.1:n.877+162C>T
NM_020533.3:c.877+162C>T MANE Select	NP_065394.1:n.877+162C>T