Canonical Allele Identifier: CA403085001
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3227398
ClinVar RCV Id: RCV004524516
gnomAD v4: 19-7528255-A-G
MyVariant Identifiers: chr19:g.7593141A>G (hg19) chr19:g.7528255A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528255A>G , CM000681.2:g.7528255A>G GRCh38
NC_000019.9:g.7593141A>G , CM000681.1:g.7593141A>G GRCh37
NC_000019.8:g.7499141A>G NCBI36
NG_015806.1:g.10646A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.875A>G MANE Select ENSP00000264079.5:p.His292Arg
ENST00000264079.10:c.875A>G ENSP00000264079.5:p.His292Arg
ENST00000394321.9:n.1190A>G
NM_020533.2:c.875A>G NP_065394.1:p.His292Arg
NM_020533.3:c.875A>G MANE Select NP_065394.1:p.His292Arg
Search 100 bp 5'
Search 100 bp 3'