Canonical Allele Identifier: CA2582317577
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2146023329
gnomAD v3: 19-7527396-T-A
gnomAD v4: 19-7527396-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527396T>A , CM000681.2:g.7527396T>A GRCh38
NC_000019.9:g.7592282T>A , CM000681.1:g.7592282T>A GRCh37
NC_000019.8:g.7498282T>A NCBI36
NG_015806.1:g.9787T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.572-124T>A MANE Select ENSP00000264079.5:n.572-124T>A
ENST00000264079.10:c.572-124T>A ENSP00000264079.5:n.572-124T>A
ENST00000394321.9:n.652-124T>A
ENST00000598406.1:n.393-124T>A
ENST00000601003.1:c.572-468T>A ENSP00000469074.1:n.572-468T>A
NM_020533.2:c.572-124T>A NP_065394.1:n.572-124T>A
NM_020533.3:c.572-124T>A MANE Select NP_065394.1:n.572-124T>A
Search 100 bp 5'
Search 100 bp 3'