Canonical Allele Identifier: CA9138873
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2195192
ClinVar RCV Id: RCV002628486
dbSNP Id: rs570012671
ExAC: 19:7592743 T / G
gnomAD v2: 19-7592743-T-G
gnomAD v3: 19-7527857-T-G
gnomAD v4: 19-7527857-T-G
MyVariant Identifiers: chr19:g.7592743T>G (hg19) chr19:g.7527857T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527857T>G , CM000681.2:g.7527857T>G GRCh38
NC_000019.9:g.7592743T>G , CM000681.1:g.7592743T>G GRCh37
NC_000019.8:g.7498743T>G NCBI36
NG_015806.1:g.10248T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.681-7T>G MANE Select ENSP00000264079.5:n.681-7T>G
ENST00000264079.10:c.681-7T>G ENSP00000264079.5:n.681-7T>G
ENST00000394321.9:n.989T>G
ENST00000601003.1:c.572-7T>G ENSP00000469074.1:n.572-7T>G
NM_020533.2:c.681-7T>G NP_065394.1:n.681-7T>G
NM_020533.3:c.681-7T>G MANE Select NP_065394.1:n.681-7T>G
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