Canonical Allele Identifier: CA2320962116
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2022582364
gnomAD v4: 19-7527078-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527078C>T , CM000681.2:g.7527078C>T GRCh38
NC_000019.9:g.7591964C>T , CM000681.1:g.7591964C>T GRCh37
NC_000019.8:g.7497964C>T NCBI36
NG_015806.1:g.9469C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.571+152C>T MANE Select ENSP00000264079.5:n.571+152C>T
ENST00000264079.10:c.571+152C>T ENSP00000264079.5:n.571+152C>T
ENST00000394321.9:n.651+152C>T
ENST00000596008.1:n.685C>T
ENST00000598406.1:n.392+152C>T
ENST00000601003.1:c.571+152C>T ENSP00000469074.1:n.571+152C>T
NM_020533.2:c.571+152C>T NP_065394.1:n.571+152C>T
NM_020533.3:c.571+152C>T MANE Select NP_065394.1:n.571+152C>T
Search 100 bp 5'
Search 100 bp 3'