Canonical Allele Identifier: CA403086643
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 813500
ClinVar RCV Id: RCV001004613
dbSNP Id: rs376777270
MyVariant Identifiers: chr19:g.7594001C>G (hg19) chr19:g.7529115C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529115C>G , CM000681.2:g.7529115C>G GRCh38
NC_000019.9:g.7594001C>G , CM000681.1:g.7594001C>G GRCh37
NC_000019.8:g.7500001C>G NCBI36
NG_015806.1:g.11506C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1149C>G MANE Select ENSP00000264079.5:p.Tyr383Ter
ENST00000264079.10:c.1149C>G ENSP00000264079.5:p.Tyr383Ter
ENST00000394321.9:n.1464C>G
ENST00000594692.1:n.145C>G
ENST00000595860.5:n.332C>G
ENST00000599334.1:c.26C>G
NM_020533.2:c.1149C>G NP_065394.1:p.Tyr383Ter
NM_020533.3:c.1149C>G MANE Select NP_065394.1:p.Tyr383Ter
Search 100 bp 5'
Search 100 bp 3'