Canonical Allele Identifier: CA9138869
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 557604
ClinVar RCV Id: RCV000673766
dbSNP Id: rs768736321
ExAC: 19:7592731 A / C
gnomAD v2: 19-7592731-A-C
gnomAD v3: 19-7527845-A-C
gnomAD v4: 19-7527845-A-C
MyVariant Identifiers: chr19:g.7592731A>C (hg19) chr19:g.7527845A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527845A>C , CM000681.2:g.7527845A>C GRCh38
NC_000019.9:g.7592731A>C , CM000681.1:g.7592731A>C GRCh37
NC_000019.8:g.7498731A>C NCBI36
NG_015806.1:g.10236A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.681-19A>C MANE Select ENSP00000264079.5:n.681-19A>C
ENST00000264079.10:c.681-19A>C ENSP00000264079.5:n.681-19A>C
ENST00000394321.9:n.977A>C
ENST00000601003.1:c.572-19A>C ENSP00000469074.1:n.572-19A>C
NM_020533.2:c.681-19A>C NP_065394.1:n.681-19A>C
NM_020533.3:c.681-19A>C MANE Select NP_065394.1:n.681-19A>C
Search 100 bp 5'
Search 100 bp 3'