Canonical Allele Identifier: CA2587949993
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7529858-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529858T>G , CM000681.2:g.7529858T>G GRCh38
NC_000019.9:g.7594744T>G , CM000681.1:g.7594744T>G GRCh37
NC_000019.8:g.7500744T>G NCBI36
NG_013374.1:g.707T>G
NG_015806.1:g.12249T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1359+146T>G MANE Select ENSP00000264079.5:n.1359+146T>G
ENST00000264079.10:c.1359+146T>G ENSP00000264079.5:n.1359+146T>G
ENST00000394321.9:n.1674+146T>G
ENST00000594692.1:n.355+146T>G
ENST00000595860.5:n.542+146T>G
ENST00000599334.1:c.236+146T>G
NM_020533.2:c.1359+146T>G NP_065394.1:n.1359+146T>G
NM_020533.3:c.1359+146T>G MANE Select NP_065394.1:n.1359+146T>G
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