Canonical Allele Identifier: CA2587950379
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7533806-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533806C>G , CM000681.2:g.7533806C>G GRCh38
NC_000019.9:g.7598692C>G , CM000681.1:g.7598692C>G GRCh37
NC_000019.8:g.7504692C>G NCBI36
NG_013374.1:g.4655C>G
NG_015806.1:g.16197C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*11C>G MANE Select ENSP00000264079.5:n.*11C>G
ENST00000264079.10:c.*11C>G ENSP00000264079.5:n.*11C>G
ENST00000394321.9:n.2069C>G
ENST00000599334.1:c.482C>G
ENST00000601870.1:c.107C>G
ENST00000602227.1:n.308C>G
NM_020533.2:c.*11C>G NP_065394.1:n.*11C>G
NM_020533.3:c.*11C>G MANE Select NP_065394.1:n.*11C>G
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Search 100 bp 3'