Canonical Allele Identifier: CA631462907
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1323524169
gnomAD v2: 19-7598741-C-T
gnomAD v3: 19-7533855-C-T
gnomAD v4: 19-7533855-C-T
MyVariant Identifiers: chr19:g.7598741C>T (hg19) chr19:g.7533855C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533855C>T , CM000681.2:g.7533855C>T GRCh38
NC_000019.9:g.7598741C>T , CM000681.1:g.7598741C>T GRCh37
NC_000019.8:g.7504741C>T NCBI36
NG_013374.1:g.4704C>T
NG_015806.1:g.16246C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*60C>T MANE Select ENSP00000264079.5:n.*60C>T
ENST00000264079.10:c.*60C>T ENSP00000264079.5:n.*60C>T
ENST00000394321.9:n.2118C>T
ENST00000599334.1:c.531C>T
ENST00000601870.1:c.156C>T
ENST00000602227.1:n.357C>T
NM_020533.2:c.*60C>T NP_065394.1:n.*60C>T
NM_020533.3:c.*60C>T MANE Select NP_065394.1:n.*60C>T
Search 100 bp 5'
Search 100 bp 3'