Canonical Allele Identifier: CA9139192
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2915799
ClinVar RCV Id: RCV003615463
dbSNP Id: rs372603871
ExAC: 19:7598394 G / C
gnomAD v2: 19-7598394-G-C
gnomAD v3: 19-7533508-G-C
gnomAD v4: 19-7533508-G-C
MyVariant Identifiers: chr19:g.7598394G>C (hg19) chr19:g.7533508G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533508G>C , CM000681.2:g.7533508G>C GRCh38
NC_000019.9:g.7598394G>C , CM000681.1:g.7598394G>C GRCh37
NC_000019.8:g.7504394G>C NCBI36
NG_013374.1:g.4357G>C
NG_015806.1:g.15899G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1576-15G>C MANE Select ENSP00000264079.5:n.1576-15G>C
ENST00000264079.10:c.1576-15G>C ENSP00000264079.5:n.1576-15G>C
ENST00000394321.9:n.1891-15G>C
ENST00000599334.1:c.304-15G>C
ENST00000602227.1:n.115G>C
NM_020533.2:c.1576-15G>C NP_065394.1:n.1576-15G>C
NM_020533.3:c.1576-15G>C MANE Select NP_065394.1:n.1576-15G>C
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