Canonical Allele Identifier: CA9138935
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs188161609
ExAC: 19:7593173 A / C
gnomAD v2: 19-7593173-A-C
gnomAD v3: 19-7528287-A-C
gnomAD v4: 19-7528287-A-C
MyVariant Identifiers: chr19:g.7593173A>C (hg19) chr19:g.7528287A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528287A>C , CM000681.2:g.7528287A>C GRCh38
NC_000019.9:g.7593173A>C , CM000681.1:g.7593173A>C GRCh37
NC_000019.8:g.7499173A>C NCBI36
NG_015806.1:g.10678A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.877+30A>C MANE Select ENSP00000264079.5:n.877+30A>C
ENST00000264079.10:c.877+30A>C ENSP00000264079.5:n.877+30A>C
ENST00000394321.9:n.1192+30A>C
NM_020533.2:c.877+30A>C NP_065394.1:n.877+30A>C
NM_020533.3:c.877+30A>C MANE Select NP_065394.1:n.877+30A>C
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