Canonical Allele Identifier: CA2587949489
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7530171-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530171C>A , CM000681.2:g.7530171C>A GRCh38
NC_000019.9:g.7595057C>A , CM000681.1:g.7595057C>A GRCh37
NC_000019.8:g.7501057C>A NCBI36
NG_013374.1:g.1020C>A
NG_015806.1:g.12562C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1360-115C>A MANE Select ENSP00000264079.5:n.1360-115C>A
ENST00000264079.10:c.1360-115C>A ENSP00000264079.5:n.1360-115C>A
ENST00000394321.9:n.1675-115C>A
ENST00000594692.1:n.356-115C>A
ENST00000595860.5:n.543-115C>A
ENST00000599334.1:c.237-264C>A
NM_020533.2:c.1360-115C>A NP_065394.1:n.1360-115C>A
NM_020533.3:c.1360-115C>A MANE Select NP_065394.1:n.1360-115C>A
Search 100 bp 5'
Search 100 bp 3'