Canonical Allele Identifier: CA403084667
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2022600162

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528203C>G , CM000681.2:g.7528203C>G GRCh38
NC_000019.9:g.7593089C>G , CM000681.1:g.7593089C>G GRCh37
NC_000019.8:g.7499089C>G NCBI36
NG_015806.1:g.10594C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.823C>G MANE Select ENSP00000264079.5:p.Leu275Val
ENST00000264079.10:c.823C>G ENSP00000264079.5:p.Leu275Val
ENST00000394321.9:n.1138C>G
NM_020533.2:c.823C>G NP_065394.1:p.Leu275Val
NM_020533.3:c.823C>G MANE Select NP_065394.1:p.Leu275Val