Canonical Allele Identifier: CA2587950452
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7533940-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533940T>A , CM000681.2:g.7533940T>A GRCh38
NC_000019.9:g.7598826T>A , CM000681.1:g.7598826T>A GRCh37
NC_000019.8:g.7504826T>A NCBI36
NG_013374.1:g.4789T>A
NG_015806.1:g.16331T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*145T>A MANE Select ENSP00000264079.5:n.*145T>A
ENST00000264079.10:c.*145T>A ENSP00000264079.5:n.*145T>A
ENST00000394321.9:n.2203T>A
ENST00000599334.1:c.616T>A
ENST00000601870.1:c.169+72T>A
ENST00000602227.1:n.442T>A
NM_020533.2:c.*145T>A NP_065394.1:n.*145T>A
NM_020533.3:c.*145T>A MANE Select NP_065394.1:n.*145T>A
Search 100 bp 5'
Search 100 bp 3'