Canonical Allele Identifier: CA2587948498
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2858788
ClinVar RCV Id: RCV003614842
gnomAD v4: 19-7527967-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527967C>G , CM000681.2:g.7527967C>G GRCh38
NC_000019.9:g.7592853C>G , CM000681.1:g.7592853C>G GRCh37
NC_000019.8:g.7498853C>G NCBI36
NG_015806.1:g.10358C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.777+7C>G MANE Select ENSP00000264079.5:n.777+7C>G
ENST00000264079.10:c.777+7C>G ENSP00000264079.5:n.777+7C>G
ENST00000394321.9:n.1092+7C>G
NM_020533.2:c.777+7C>G NP_065394.1:n.777+7C>G
NM_020533.3:c.777+7C>G MANE Select NP_065394.1:n.777+7C>G
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Search 100 bp 3'