Canonical Allele Identifier: CA2320965140
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2022693881
gnomAD v4: 19-7533375-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533375T>A , CM000681.2:g.7533375T>A GRCh38
NC_000019.9:g.7598261T>A , CM000681.1:g.7598261T>A GRCh37
NC_000019.8:g.7504261T>A NCBI36
NG_013374.1:g.4224T>A
NG_015806.1:g.15766T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1576-148T>A MANE Select ENSP00000264079.5:n.1576-148T>A
ENST00000264079.10:c.1576-148T>A ENSP00000264079.5:n.1576-148T>A
ENST00000394321.9:n.1891-148T>A
ENST00000599334.1:c.304-148T>A
NM_020533.2:c.1576-148T>A NP_065394.1:n.1576-148T>A
NM_020533.3:c.1576-148T>A MANE Select NP_065394.1:n.1576-148T>A
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