Canonical Allele Identifier: CA304857367
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs543749105
gnomAD v3: 19-7533819-G-C
gnomAD v4: 19-7533819-G-C
MyVariant Identifiers: chr19:g.7598705G>C (hg19) chr19:g.7533819G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533819G>C , CM000681.2:g.7533819G>C GRCh38
NC_000019.9:g.7598705G>C , CM000681.1:g.7598705G>C GRCh37
NC_000019.8:g.7504705G>C NCBI36
NG_013374.1:g.4668G>C
NG_015806.1:g.16210G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*24G>C MANE Select ENSP00000264079.5:n.*24G>C
ENST00000264079.10:c.*24G>C ENSP00000264079.5:n.*24G>C
ENST00000394321.9:n.2082G>C
ENST00000599334.1:c.495G>C
ENST00000601870.1:c.120G>C
ENST00000602227.1:n.321G>C
NM_020533.2:c.*24G>C NP_065394.1:n.*24G>C
NM_020533.3:c.*24G>C MANE Select NP_065394.1:n.*24G>C
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