Canonical Allele Identifier: CA9138816
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 970465
ClinVar RCV Id: RCV001246041
dbSNP Id: rs1002423309
ExAC: 19:7592518 C / T
gnomAD v2: 19-7592518-C-T
gnomAD v3: 19-7527632-C-T
gnomAD v4: 19-7527632-C-T
MyVariant Identifiers: chr19:g.7592518C>T (hg19) chr19:g.7592518_7592519delinsTT (hg19) chr19:g.7527632C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527632C>T , CM000681.2:g.7527632C>T GRCh38
NC_000019.9:g.7592518C>T , CM000681.1:g.7592518C>T GRCh37
NC_000019.8:g.7498518C>T NCBI36
NG_015806.1:g.10023C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.680+4C>T MANE Select ENSP00000264079.5:n.680+4C>T
ENST00000264079.10:c.680+4C>T ENSP00000264079.5:n.680+4C>T
ENST00000394321.9:n.764C>T
ENST00000598406.1:n.505C>T
ENST00000601003.1:c.572-232C>T ENSP00000469074.1:n.572-232C>T
NM_020533.2:c.680+4C>T NP_065394.1:n.680+4C>T
NM_020533.3:c.680+4C>T MANE Select NP_065394.1:n.680+4C>T
Search 100 bp 5'
Search 100 bp 3'