Canonical Allele Identifier: CA9139253
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs758421710
ExAC: 19:7598684 C / G
gnomAD v2: 19-7598684-C-G
gnomAD v3: 19-7533798-C-G
gnomAD v4: 19-7533798-C-G
MyVariant Identifiers: chr19:g.7598684C>G (hg19) chr19:g.7533798C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533798C>G , CM000681.2:g.7533798C>G GRCh38
NC_000019.9:g.7598684C>G , CM000681.1:g.7598684C>G GRCh37
NC_000019.8:g.7504684C>G NCBI36
NG_013374.1:g.4647C>G
NG_015806.1:g.16189C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*3C>G MANE Select ENSP00000264079.5:n.*3C>G
ENST00000264079.10:c.*3C>G ENSP00000264079.5:n.*3C>G
ENST00000394321.9:n.2061C>G
ENST00000599334.1:c.474C>G
ENST00000601870.1:c.99C>G
ENST00000602227.1:n.300C>G
NM_020533.2:c.*3C>G NP_065394.1:n.*3C>G
NM_020533.3:c.*3C>G MANE Select NP_065394.1:n.*3C>G
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