Canonical Allele Identifier: CA9139137
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2712661
ClinVar RCV Id: RCV003506013
dbSNP Id: rs764264222
ExAC: 19:7595155 C / G
gnomAD v2: 19-7595155-C-G
gnomAD v3: 19-7530269-C-G
gnomAD v4: 19-7530269-C-G
MyVariant Identifiers: chr19:g.7595155C>G (hg19) chr19:g.7530269C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530269C>G , CM000681.2:g.7530269C>G GRCh38
NC_000019.9:g.7595155C>G , CM000681.1:g.7595155C>G GRCh37
NC_000019.8:g.7501155C>G NCBI36
NG_013374.1:g.1118C>G
NG_015806.1:g.12660C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1360-17C>G MANE Select ENSP00000264079.5:n.1360-17C>G
ENST00000264079.10:c.1360-17C>G ENSP00000264079.5:n.1360-17C>G
ENST00000394321.9:n.1675-17C>G
ENST00000594692.1:n.356-17C>G
ENST00000595860.5:n.543-17C>G
ENST00000599334.1:c.237-166C>G
NM_020533.2:c.1360-17C>G NP_065394.1:n.1360-17C>G
NM_020533.3:c.1360-17C>G MANE Select NP_065394.1:n.1360-17C>G
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