Canonical Allele Identifier: CA304853325
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 569030
ClinVar RCV Id: RCV000689558
dbSNP Id: rs145706318
gnomAD v4: 19-7527537-C-A
MyVariant Identifiers: chr19:g.7592423C>A (hg19) chr19:g.7527537C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527537C>A , CM000681.2:g.7527537C>A GRCh38
NC_000019.9:g.7592423C>A , CM000681.1:g.7592423C>A GRCh37
NC_000019.8:g.7498423C>A NCBI36
NG_015806.1:g.9928C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.589C>A MANE Select ENSP00000264079.5:p.Pro197Thr
ENST00000264079.10:c.589C>A ENSP00000264079.5:p.Pro197Thr
ENST00000394321.9:n.669C>A
ENST00000598406.1:n.410C>A
ENST00000601003.1:c.572-327C>A ENSP00000469074.1:n.572-327C>A
NM_020533.2:c.589C>A NP_065394.1:p.Pro197Thr
NM_020533.3:c.589C>A MANE Select NP_065394.1:p.Pro197Thr
Search 100 bp 5'
Search 100 bp 3'