Canonical Allele Identifier: CA2320963539
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1599255806
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529902A>C , CM000681.2:g.7529902A>C GRCh38
NC_000019.9:g.7594788A>C , CM000681.1:g.7594788A>C GRCh37
NC_000019.8:g.7500788A>C NCBI36
NG_013374.1:g.751A>C
NG_015806.1:g.12293A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1359+190A>C MANE Select ENSP00000264079.5:n.1359+190A>C
ENST00000264079.10:c.1359+190A>C ENSP00000264079.5:n.1359+190A>C
ENST00000394321.9:n.1674+190A>C
ENST00000594692.1:n.355+190A>C
ENST00000595860.5:n.542+190A>C
ENST00000599334.1:c.236+190A>C
NM_020533.2:c.1359+190A>C NP_065394.1:n.1359+190A>C
NM_020533.3:c.1359+190A>C MANE Select NP_065394.1:n.1359+190A>C
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