Canonical Allele Identifier: CA631462856
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1626948
ClinVar RCV Id: RCV002120672
dbSNP Id: rs1179098814
gnomAD v2: 19-7598546-G-T
gnomAD v4: 19-7533660-G-T
MyVariant Identifiers: chr19:g.7598546G>T (hg19) chr19:g.7533660G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533660G>T , CM000681.2:g.7533660G>T GRCh38
NC_000019.9:g.7598546G>T , CM000681.1:g.7598546G>T GRCh37
NC_000019.8:g.7504546G>T NCBI36
NG_013374.1:g.4509G>T
NG_015806.1:g.16051G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1706+7G>T MANE Select ENSP00000264079.5:n.1706+7G>T
ENST00000264079.10:c.1706+7G>T ENSP00000264079.5:n.1706+7G>T
ENST00000394321.9:n.2021+7G>T
ENST00000599334.1:c.434+7G>T
ENST00000601870.1:c.59+7G>T
ENST00000602227.1:n.260+7G>T
NM_020533.2:c.1706+7G>T NP_065394.1:n.1706+7G>T
NM_020533.3:c.1706+7G>T MANE Select NP_065394.1:n.1706+7G>T
Search 100 bp 5'
Search 100 bp 3'