Canonical Allele Identifier: CA2320965589
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2022713954
gnomAD v4: 19-7533850-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533850C>T , CM000681.2:g.7533850C>T GRCh38
NC_000019.9:g.7598736C>T , CM000681.1:g.7598736C>T GRCh37
NC_000019.8:g.7504736C>T NCBI36
NG_013374.1:g.4699C>T
NG_015806.1:g.16241C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*55C>T MANE Select ENSP00000264079.5:n.*55C>T
ENST00000264079.10:c.*55C>T ENSP00000264079.5:n.*55C>T
ENST00000394321.9:n.2113C>T
ENST00000599334.1:c.526C>T
ENST00000601870.1:c.151C>T
ENST00000602227.1:n.352C>T
NM_020533.2:c.*55C>T NP_065394.1:n.*55C>T
NM_020533.3:c.*55C>T MANE Select NP_065394.1:n.*55C>T
Search 100 bp 5'
Search 100 bp 3'