Canonical Allele Identifier: CA2587950462
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7533947-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533947G>T , CM000681.2:g.7533947G>T GRCh38
NC_000019.9:g.7598833G>T , CM000681.1:g.7598833G>T GRCh37
NC_000019.8:g.7504833G>T NCBI36
NG_013374.1:g.4796G>T
NG_015806.1:g.16338G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*152G>T MANE Select ENSP00000264079.5:n.*152G>T
ENST00000264079.10:c.*152G>T ENSP00000264079.5:n.*152G>T
ENST00000394321.9:n.2210G>T
ENST00000599334.1:c.623G>T
ENST00000601870.1:c.169+79G>T
ENST00000602227.1:n.449G>T
NM_020533.2:c.*152G>T NP_065394.1:n.*152G>T
NM_020533.3:c.*152G>T MANE Select NP_065394.1:n.*152G>T
Search 100 bp 5'
Search 100 bp 3'