Canonical Allele Identifier: CA2576597131
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2783951
ClinVar RCV Id: RCV003614313
gnomAD v4: 19-7528978-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528978C>T , CM000681.2:g.7528978C>T GRCh38
NC_000019.9:g.7593864C>T , CM000681.1:g.7593864C>T GRCh37
NC_000019.8:g.7499864C>T NCBI36
NG_015806.1:g.11369C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1134+8C>T MANE Select ENSP00000264079.5:n.1134+8C>T
ENST00000264079.10:c.1134+8C>T ENSP00000264079.5:n.1134+8C>T
ENST00000394321.9:n.1449+8C>T
ENST00000594692.1:n.8C>T
ENST00000595860.5:n.317+8C>T
ENST00000599334.1:c.11+8C>T
NM_020533.2:c.1134+8C>T NP_065394.1:n.1134+8C>T
NM_020533.3:c.1134+8C>T MANE Select NP_065394.1:n.1134+8C>T
Search 100 bp 5'
Search 100 bp 3'