Canonical Allele Identifier: CA9138934
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 558939
ClinVar RCV Id: RCV000675738 RCV001527280
dbSNP Id: rs2305889
ExAC: 19:7593169 A / G
gnomAD v2: 19-7593169-A-G
gnomAD v3: 19-7528283-A-G
gnomAD v4: 19-7528283-A-G
MyVariant Identifiers: chr19:g.7593169A>G (hg19) chr19:g.7528283A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528283A>G , CM000681.2:g.7528283A>G GRCh38
NC_000019.9:g.7593169A>G , CM000681.1:g.7593169A>G GRCh37
NC_000019.8:g.7499169A>G NCBI36
NG_015806.1:g.10674A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.877+26A>G MANE Select ENSP00000264079.5:n.877+26A>G
ENST00000264079.10:c.877+26A>G ENSP00000264079.5:n.877+26A>G
ENST00000394321.9:n.1192+26A>G
NM_020533.2:c.877+26A>G NP_065394.1:n.877+26A>G
NM_020533.3:c.877+26A>G MANE Select NP_065394.1:n.877+26A>G
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Search 100 bp 3'