Canonical Allele Identifier: CA2320963508
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529836C= , CM000681.2:g.7529836C= GRCh38
NC_000019.9:g.7594722C= , CM000681.1:g.7594722C= GRCh37
NC_000019.8:g.7500722C= NCBI36
NG_013374.1:g.685C=
NG_015806.1:g.12227C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1359+124C= MANE Select ENSP00000264079.5:n.1359+124C=
ENST00000264079.10:c.1359+124C= ENSP00000264079.5:n.1359+124C=
ENST00000394321.9:n.1674+124C=
ENST00000594692.1:n.355+124C=
ENST00000595860.5:n.542+124C=
ENST00000599334.1:c.236+124C=
NM_020533.2:c.1359+124C= NP_065394.1:n.1359+124C=
NM_020533.3:c.1359+124C= MANE Select NP_065394.1:n.1359+124C=
Search 100 bp 5'
Search 100 bp 3'