Canonical Allele Identifier: CA2587950272
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7533409-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533409C>A , CM000681.2:g.7533409C>A GRCh38
NC_000019.9:g.7598295C>A , CM000681.1:g.7598295C>A GRCh37
NC_000019.8:g.7504295C>A NCBI36
NG_013374.1:g.4258C>A
NG_015806.1:g.15800C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1576-114C>A MANE Select ENSP00000264079.5:n.1576-114C>A
ENST00000264079.10:c.1576-114C>A ENSP00000264079.5:n.1576-114C>A
ENST00000394321.9:n.1891-114C>A
ENST00000599334.1:c.304-114C>A
ENST00000602227.1:n.16C>A
NM_020533.2:c.1576-114C>A NP_065394.1:n.1576-114C>A
NM_020533.3:c.1576-114C>A MANE Select NP_065394.1:n.1576-114C>A
Search 100 bp 5'
Search 100 bp 3'