Canonical Allele Identifier: CA2320965557
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2022711276
gnomAD v4: 19-7533806-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533806C>T , CM000681.2:g.7533806C>T GRCh38
NC_000019.9:g.7598692C>T , CM000681.1:g.7598692C>T GRCh37
NC_000019.8:g.7504692C>T NCBI36
NG_013374.1:g.4655C>T
NG_015806.1:g.16197C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*11C>T MANE Select ENSP00000264079.5:n.*11C>T
ENST00000264079.10:c.*11C>T ENSP00000264079.5:n.*11C>T
ENST00000394321.9:n.2069C>T
ENST00000599334.1:c.482C>T
ENST00000601870.1:c.107C>T
ENST00000602227.1:n.308C>T
NM_020533.2:c.*11C>T NP_065394.1:n.*11C>T
NM_020533.3:c.*11C>T MANE Select NP_065394.1:n.*11C>T
Search 100 bp 5'
Search 100 bp 3'