Canonical Allele Identifier: CA2587950398
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7533856-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533856C>A , CM000681.2:g.7533856C>A GRCh38
NC_000019.9:g.7598742C>A , CM000681.1:g.7598742C>A GRCh37
NC_000019.8:g.7504742C>A NCBI36
NG_013374.1:g.4705C>A
NG_015806.1:g.16247C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*61C>A MANE Select ENSP00000264079.5:n.*61C>A
ENST00000264079.10:c.*61C>A ENSP00000264079.5:n.*61C>A
ENST00000394321.9:n.2119C>A
ENST00000599334.1:c.532C>A
ENST00000601870.1:c.157C>A
ENST00000602227.1:n.358C>A
NM_020533.2:c.*61C>A NP_065394.1:n.*61C>A
NM_020533.3:c.*61C>A MANE Select NP_065394.1:n.*61C>A
Search 100 bp 5'
Search 100 bp 3'