Canonical Allele Identifier: CA2587947874
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7526649-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526649G>C , CM000681.2:g.7526649G>C GRCh38
NC_000019.9:g.7591535G>C , CM000681.1:g.7591535G>C GRCh37
NC_000019.8:g.7497535G>C NCBI36
NG_015806.1:g.9040G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.405+43G>C MANE Select ENSP00000264079.5:n.405+43G>C
ENST00000264079.10:c.405+43G>C ENSP00000264079.5:n.405+43G>C
ENST00000394321.9:n.485+43G>C
ENST00000596008.1:n.367+43G>C
ENST00000598406.1:n.226+43G>C
ENST00000601003.1:c.405+43G>C ENSP00000469074.1:n.405+43G>C
NM_020533.2:c.405+43G>C NP_065394.1:n.405+43G>C
NM_020533.3:c.405+43G>C MANE Select NP_065394.1:n.405+43G>C
Search 100 bp 5'
Search 100 bp 3'