Canonical Allele Identifier: CA9139185
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1189126
ClinVar RCV Id: RCV001549399
dbSNP Id: rs199919395
ExAC: 19:7598380 A / G
gnomAD v2: 19-7598380-A-G
gnomAD v3: 19-7533494-A-G
gnomAD v4: 19-7533494-A-G
MyVariant Identifiers: chr19:g.7598380A>G (hg19) chr19:g.7533494A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533494A>G , CM000681.2:g.7533494A>G GRCh38
NC_000019.9:g.7598380A>G , CM000681.1:g.7598380A>G GRCh37
NC_000019.8:g.7504380A>G NCBI36
NG_013374.1:g.4343A>G
NG_015806.1:g.15885A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1576-29A>G MANE Select ENSP00000264079.5:n.1576-29A>G
ENST00000264079.10:c.1576-29A>G ENSP00000264079.5:n.1576-29A>G
ENST00000394321.9:n.1891-29A>G
ENST00000599334.1:c.304-29A>G
ENST00000602227.1:n.101A>G
NM_020533.2:c.1576-29A>G NP_065394.1:n.1576-29A>G
NM_020533.3:c.1576-29A>G MANE Select NP_065394.1:n.1576-29A>G
Search 100 bp 5'
Search 100 bp 3'