Canonical Allele Identifier: CA2697556168
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2739370
ClinVar RCV Id: RCV003506666
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533666G>A , CM000681.2:g.7533666G>A GRCh38
NC_000019.9:g.7598552G>A , CM000681.1:g.7598552G>A GRCh37
NC_000019.8:g.7504552G>A NCBI36
NG_013374.1:g.4515G>A
NG_015806.1:g.16057G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1706+13G>A MANE Select ENSP00000264079.5:n.1706+13G>A
ENST00000264079.10:c.1706+13G>A ENSP00000264079.5:n.1706+13G>A
ENST00000394321.9:n.2021+13G>A
ENST00000599334.1:c.434+13G>A
ENST00000601870.1:c.59+13G>A
ENST00000602227.1:n.260+13G>A
NM_020533.2:c.1706+13G>A NP_065394.1:n.1706+13G>A
NM_020533.3:c.1706+13G>A MANE Select NP_065394.1:n.1706+13G>A
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