Canonical Allele Identifier: CA2320963497
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2022628660
gnomAD v4: 19-7529816-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529816T>C , CM000681.2:g.7529816T>C GRCh38
NC_000019.9:g.7594702T>C , CM000681.1:g.7594702T>C GRCh37
NC_000019.8:g.7500702T>C NCBI36
NG_013374.1:g.665T>C
NG_015806.1:g.12207T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1359+104T>C MANE Select ENSP00000264079.5:n.1359+104T>C
ENST00000264079.10:c.1359+104T>C ENSP00000264079.5:n.1359+104T>C
ENST00000394321.9:n.1674+104T>C
ENST00000594692.1:n.355+104T>C
ENST00000595860.5:n.542+104T>C
ENST00000599334.1:c.236+104T>C
NM_020533.2:c.1359+104T>C NP_065394.1:n.1359+104T>C
NM_020533.3:c.1359+104T>C MANE Select NP_065394.1:n.1359+104T>C
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