Canonical Allele Identifier: CA403152313
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1469759
ClinVar RCV Id: RCV001995040
dbSNP Id: rs2146021137
MyVariant Identifiers: chr19:g.7589846G>C (hg19) chr19:g.7524960G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7524960G>C , CM000681.2:g.7524960G>C GRCh38
NC_000019.9:g.7589846G>C , CM000681.1:g.7589846G>C GRCh37
NC_000019.8:g.7495846G>C NCBI36
NG_015806.1:g.7351G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.32-1G>C MANE Select ENSP00000264079.5:n.32-1G>C
ENST00000264079.10:c.32-1G>C ENSP00000264079.5:n.32-1G>C
ENST00000394321.9:n.112-1G>C
ENST00000596390.1:n.148-1G>C
ENST00000601003.1:c.32-1G>C ENSP00000469074.1:n.32-1G>C
NM_020533.2:c.32-1G>C NP_065394.1:n.32-1G>C
XR_936293.2:n.21C>G
XR_936294.2:n.21C>G
NM_020533.3:c.32-1G>C MANE Select NP_065394.1:n.32-1G>C
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