Canonical Allele Identifier: CA403086779
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1034995
ClinVar RCV Id: RCV001337797
dbSNP Id: rs2022617347
gnomAD v4: 19-7529140-A-G
MyVariant Identifiers: chr19:g.7594026A>G (hg19) chr19:g.7529140A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529140A>G , CM000681.2:g.7529140A>G GRCh38
NC_000019.9:g.7594026A>G , CM000681.1:g.7594026A>G GRCh37
NC_000019.8:g.7500026A>G NCBI36
NG_015806.1:g.11531A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1174A>G MANE Select ENSP00000264079.5:p.Thr392Ala
ENST00000264079.10:c.1174A>G ENSP00000264079.5:p.Thr392Ala
ENST00000394321.9:n.1489A>G
ENST00000594692.1:n.170A>G
ENST00000595860.5:n.357A>G
ENST00000599334.1:c.51A>G
NM_020533.2:c.1174A>G NP_065394.1:p.Thr392Ala
NM_020533.3:c.1174A>G MANE Select NP_065394.1:p.Thr392Ala
Search 100 bp 5'
Search 100 bp 3'