Canonical Allele Identifier: CA304853007
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1235114
ClinVar RCV Id: RCV001621878
dbSNP Id: rs111678852
gnomAD v2: 19-7591903-A-G
gnomAD v3: 19-7527017-A-G
gnomAD v4: 19-7527017-A-G
MyVariant Identifiers: chr19:g.7591903A>G (hg19) chr19:g.7527017A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527017A>G , CM000681.2:g.7527017A>G GRCh38
NC_000019.9:g.7591903A>G , CM000681.1:g.7591903A>G GRCh37
NC_000019.8:g.7497903A>G NCBI36
NG_015806.1:g.9408A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.571+91A>G MANE Select ENSP00000264079.5:n.571+91A>G
ENST00000264079.10:c.571+91A>G ENSP00000264079.5:n.571+91A>G
ENST00000394321.9:n.651+91A>G
ENST00000596008.1:n.624A>G
ENST00000598406.1:n.392+91A>G
ENST00000601003.1:c.571+91A>G ENSP00000469074.1:n.571+91A>G
NM_020533.2:c.571+91A>G NP_065394.1:n.571+91A>G
NM_020533.3:c.571+91A>G MANE Select NP_065394.1:n.571+91A>G
Search 100 bp 5'
Search 100 bp 3'