Canonical Allele Identifier: CA9139265
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs771781291
ExAC: 19:7598728 C / T
gnomAD v2: 19-7598728-C-T
gnomAD v4: 19-7533842-C-T
MyVariant Identifiers: chr19:g.7598728C>T (hg19) chr19:g.7533842C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533842C>T , CM000681.2:g.7533842C>T GRCh38
NC_000019.9:g.7598728C>T , CM000681.1:g.7598728C>T GRCh37
NC_000019.8:g.7504728C>T NCBI36
NG_013374.1:g.4691C>T
NG_015806.1:g.16233C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*47C>T MANE Select ENSP00000264079.5:n.*47C>T
ENST00000264079.10:c.*47C>T ENSP00000264079.5:n.*47C>T
ENST00000394321.9:n.2105C>T
ENST00000599334.1:c.518C>T
ENST00000601870.1:c.143C>T
ENST00000602227.1:n.344C>T
NM_020533.2:c.*47C>T NP_065394.1:n.*47C>T
NM_020533.3:c.*47C>T MANE Select NP_065394.1:n.*47C>T
Search 100 bp 5'
Search 100 bp 3'