Canonical Allele Identifier: CA9138921
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 330495
ClinVar RCV Id: RCV000365223
dbSNP Id: rs183077397
ExAC: 19:7593081 C / G
gnomAD v2: 19-7593081-C-G
gnomAD v3: 19-7528195-C-G
gnomAD v4: 19-7528195-C-G
MyVariant Identifiers: chr19:g.7593081C>G (hg19) chr19:g.7528195C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528195C>G , CM000681.2:g.7528195C>G GRCh38
NC_000019.9:g.7593081C>G , CM000681.1:g.7593081C>G GRCh37
NC_000019.8:g.7499081C>G NCBI36
NG_015806.1:g.10586C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.815C>G MANE Select ENSP00000264079.5:p.Pro272Arg
ENST00000264079.10:c.815C>G ENSP00000264079.5:p.Pro272Arg
ENST00000394321.9:n.1130C>G
NM_020533.2:c.815C>G NP_065394.1:p.Pro272Arg
NM_020533.3:c.815C>G MANE Select NP_065394.1:p.Pro272Arg
Search 100 bp 5'
Search 100 bp 3'