Canonical Allele Identifier: CA2587948670
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7528396-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528396A>G , CM000681.2:g.7528396A>G GRCh38
NC_000019.9:g.7593282A>G , CM000681.1:g.7593282A>G GRCh37
NC_000019.8:g.7499282A>G NCBI36
NG_015806.1:g.10787A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.877+139A>G MANE Select ENSP00000264079.5:n.877+139A>G
ENST00000264079.10:c.877+139A>G ENSP00000264079.5:n.877+139A>G
ENST00000394321.9:n.1192+139A>G
NM_020533.2:c.877+139A>G NP_065394.1:n.877+139A>G
NM_020533.3:c.877+139A>G MANE Select NP_065394.1:n.877+139A>G
Search 100 bp 5'
Search 100 bp 3'