Canonical Allele Identifier: CA631319438
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs778240176
gnomAD v2: 19-7598787-C-G
gnomAD v4: 19-7533901-C-G
MyVariant Identifiers: chr19:g.7598787C>G (hg19) chr19:g.7533901C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533901C>G , CM000681.2:g.7533901C>G GRCh38
NC_000019.9:g.7598787C>G , CM000681.1:g.7598787C>G GRCh37
NC_000019.8:g.7504787C>G NCBI36
NG_013374.1:g.4750C>G
NG_015806.1:g.16292C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*106C>G MANE Select ENSP00000264079.5:n.*106C>G
ENST00000264079.10:c.*106C>G ENSP00000264079.5:n.*106C>G
ENST00000394321.9:n.2164C>G
ENST00000599334.1:c.577C>G
ENST00000601870.1:c.169+33C>G
ENST00000602227.1:n.403C>G
NM_020533.2:c.*106C>G NP_065394.1:n.*106C>G
NM_020533.3:c.*106C>G MANE Select NP_065394.1:n.*106C>G
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