Canonical Allele Identifier: CA403082098
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs746734538
gnomAD v3: 19-7527556-C-A
gnomAD v4: 19-7527556-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527556C>A , CM000681.2:g.7527556C>A GRCh38
NC_000019.9:g.7592442C>A , CM000681.1:g.7592442C>A GRCh37
NC_000019.8:g.7498442C>A NCBI36
NG_015806.1:g.9947C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.608C>A MANE Select ENSP00000264079.5:p.Pro203Gln
ENST00000264079.10:c.608C>A ENSP00000264079.5:p.Pro203Gln
ENST00000394321.9:n.688C>A
ENST00000598406.1:n.429C>A
ENST00000601003.1:c.572-308C>A ENSP00000469074.1:n.572-308C>A
NM_020533.2:c.608C>A NP_065394.1:p.Pro203Gln
NM_020533.3:c.608C>A MANE Select NP_065394.1:p.Pro203Gln