Canonical Allele Identifier: CA505233355
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2696223
ClinVar RCV Id: RCV003505449
gnomAD v4: 19-7533573-A-C
MyVariant Identifiers: chr19:g.7598459A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533573A>C , CM000681.2:g.7533573A>C GRCh38
NC_000019.9:g.7598459A>C , CM000681.1:g.7598459A>C GRCh37
NC_000019.8:g.7504459A>C NCBI36
NG_013374.1:g.4422A>C
NG_015806.1:g.15964A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1626A>C MANE Select ENSP00000264079.5:p.Ala542=
ENST00000264079.10:c.1626A>C ENSP00000264079.5:p.Ala542=
ENST00000394321.9:n.1941A>C
ENST00000599334.1:c.354A>C
ENST00000602227.1:n.180A>C
NM_020533.2:c.1626A>C NP_065394.1:p.Ala542=
NM_020533.3:c.1626A>C MANE Select NP_065394.1:p.Ala542=
Search 100 bp 5'
Search 100 bp 3'