Canonical Allele Identifier: CA2320965501
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2022706529
gnomAD v4: 19-7533686-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533686G>A , CM000681.2:g.7533686G>A GRCh38
NC_000019.9:g.7598572G>A , CM000681.1:g.7598572G>A GRCh37
NC_000019.8:g.7504572G>A NCBI36
NG_013374.1:g.4535G>A
NG_015806.1:g.16077G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1706+33G>A MANE Select ENSP00000264079.5:n.1706+33G>A
ENST00000264079.10:c.1706+33G>A ENSP00000264079.5:n.1706+33G>A
ENST00000394321.9:n.2021+33G>A
ENST00000599334.1:c.434+33G>A
ENST00000601870.1:c.59+33G>A
ENST00000602227.1:n.260+33G>A
NM_020533.2:c.1706+33G>A NP_065394.1:n.1706+33G>A
NM_020533.3:c.1706+33G>A MANE Select NP_065394.1:n.1706+33G>A
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