Canonical Allele Identifier: CA2499225623
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1125810
ClinVar RCV Id: RCV001457624
dbSNP Id: rs2146022369
gnomAD v4: 19-7526429-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526429C>G , CM000681.2:g.7526429C>G GRCh38
NC_000019.9:g.7591315C>G , CM000681.1:g.7591315C>G GRCh37
NC_000019.8:g.7497315C>G NCBI36
NG_015806.1:g.8820C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.238-10C>G MANE Select ENSP00000264079.5:n.238-10C>G
ENST00000264079.10:c.238-10C>G ENSP00000264079.5:n.238-10C>G
ENST00000394321.9:n.318-10C>G
ENST00000596008.1:n.190C>G
ENST00000598406.1:n.49C>G
ENST00000601003.1:c.238-10C>G ENSP00000469074.1:n.238-10C>G
NM_020533.2:c.238-10C>G NP_065394.1:n.238-10C>G
NM_020533.3:c.238-10C>G MANE Select NP_065394.1:n.238-10C>G
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