Canonical Allele Identifier: CA2320963719
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs758551438
gnomAD v4: 19-7530167-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530167C>G , CM000681.2:g.7530167C>G GRCh38
NC_000019.9:g.7595053C>G , CM000681.1:g.7595053C>G GRCh37
NC_000019.8:g.7501053C>G NCBI36
NG_013374.1:g.1016C>G
NG_015806.1:g.12558C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1360-119C>G MANE Select ENSP00000264079.5:n.1360-119C>G
ENST00000264079.10:c.1360-119C>G ENSP00000264079.5:n.1360-119C>G
ENST00000394321.9:n.1675-119C>G
ENST00000594692.1:n.356-119C>G
ENST00000595860.5:n.543-119C>G
ENST00000599334.1:c.237-268C>G
NM_020533.2:c.1360-119C>G NP_065394.1:n.1360-119C>G
NM_020533.3:c.1360-119C>G MANE Select NP_065394.1:n.1360-119C>G
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