Canonical Allele Identifier: CA2582317619
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2146029420
gnomAD v3: 19-7533276-G-A
gnomAD v4: 19-7533276-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533276G>A , CM000681.2:g.7533276G>A GRCh38
NC_000019.9:g.7598162G>A , CM000681.1:g.7598162G>A GRCh37
NC_000019.8:g.7504162G>A NCBI36
NG_013374.1:g.4125G>A
NG_015806.1:g.15667G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1576-247G>A MANE Select ENSP00000264079.5:n.1576-247G>A
ENST00000264079.10:c.1576-247G>A ENSP00000264079.5:n.1576-247G>A
ENST00000394321.9:n.1891-247G>A
ENST00000599334.1:c.304-247G>A
NM_020533.2:c.1576-247G>A NP_065394.1:n.1576-247G>A
NM_020533.3:c.1576-247G>A MANE Select NP_065394.1:n.1576-247G>A
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