Canonical Allele Identifier: CA2587948653
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7528375-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528375T>A , CM000681.2:g.7528375T>A GRCh38
NC_000019.9:g.7593261T>A , CM000681.1:g.7593261T>A GRCh37
NC_000019.8:g.7499261T>A NCBI36
NG_015806.1:g.10766T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.877+118T>A MANE Select ENSP00000264079.5:n.877+118T>A
ENST00000264079.10:c.877+118T>A ENSP00000264079.5:n.877+118T>A
ENST00000394321.9:n.1192+118T>A
NM_020533.2:c.877+118T>A NP_065394.1:n.877+118T>A
NM_020533.3:c.877+118T>A MANE Select NP_065394.1:n.877+118T>A
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Search 100 bp 3'