Canonical Allele Identifier: CA2587950465
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7533952-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533952G>C , CM000681.2:g.7533952G>C GRCh38
NC_000019.9:g.7598838G>C , CM000681.1:g.7598838G>C GRCh37
NC_000019.8:g.7504838G>C NCBI36
NG_013374.1:g.4801G>C
NG_015806.1:g.16343G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*157G>C MANE Select ENSP00000264079.5:n.*157G>C
ENST00000264079.10:c.*157G>C ENSP00000264079.5:n.*157G>C
ENST00000394321.9:n.2215G>C
ENST00000599334.1:c.628G>C
ENST00000601870.1:c.169+84G>C
ENST00000602227.1:n.454G>C
NM_020533.2:c.*157G>C NP_065394.1:n.*157G>C
NM_020533.3:c.*157G>C MANE Select NP_065394.1:n.*157G>C
Search 100 bp 5'
Search 100 bp 3'