Canonical Allele Identifier: CA2587950489
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7533987-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533987T>C , CM000681.2:g.7533987T>C GRCh38
NC_000019.9:g.7598873T>C , CM000681.1:g.7598873T>C GRCh37
NC_000019.8:g.7504873T>C NCBI36
NG_013374.1:g.4836T>C
NG_015806.1:g.16378T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*192T>C MANE Select ENSP00000264079.5:n.*192T>C
ENST00000264079.10:c.*192T>C ENSP00000264079.5:n.*192T>C
ENST00000394321.9:n.2250T>C
ENST00000599334.1:c.663T>C
ENST00000601870.1:c.169+119T>C
ENST00000602227.1:n.489T>C
NM_020533.2:c.*192T>C NP_065394.1:n.*192T>C
NM_020533.3:c.*192T>C MANE Select NP_065394.1:n.*192T>C
Search 100 bp 5'
Search 100 bp 3'