Canonical Allele Identifier: CA993153904
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2022585220
gnomAD v3: 19-7527269-C-A
gnomAD v4: 19-7527269-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527269C>A , CM000681.2:g.7527269C>A GRCh38
NC_000019.9:g.7592155C>A , CM000681.1:g.7592155C>A GRCh37
NC_000019.8:g.7498155C>A NCBI36
NG_015806.1:g.9660C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.572-251C>A MANE Select ENSP00000264079.5:n.572-251C>A
ENST00000264079.10:c.572-251C>A ENSP00000264079.5:n.572-251C>A
ENST00000394321.9:n.652-251C>A
ENST00000598406.1:n.393-251C>A
ENST00000601003.1:c.571+343C>A ENSP00000469074.1:n.571+343C>A
NM_020533.2:c.572-251C>A NP_065394.1:n.572-251C>A
NM_020533.3:c.572-251C>A MANE Select NP_065394.1:n.572-251C>A
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