Canonical Allele Identifier: CA2320963553
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1599255822
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529922A>C , CM000681.2:g.7529922A>C GRCh38
NC_000019.9:g.7594808A>C , CM000681.1:g.7594808A>C GRCh37
NC_000019.8:g.7500808A>C NCBI36
NG_013374.1:g.771A>C
NG_015806.1:g.12313A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1359+210A>C MANE Select ENSP00000264079.5:n.1359+210A>C
ENST00000264079.10:c.1359+210A>C ENSP00000264079.5:n.1359+210A>C
ENST00000394321.9:n.1674+210A>C
ENST00000594692.1:n.355+210A>C
ENST00000595860.5:n.542+210A>C
ENST00000599334.1:c.236+210A>C
NM_020533.2:c.1359+210A>C NP_065394.1:n.1359+210A>C
NM_020533.3:c.1359+210A>C MANE Select NP_065394.1:n.1359+210A>C
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