Canonical Allele Identifier: CA2320963570
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529944G= , CM000681.2:g.7529944G= GRCh38
NC_000019.9:g.7594830G= , CM000681.1:g.7594830G= GRCh37
NC_000019.8:g.7500830G= NCBI36
NG_013374.1:g.793G=
NG_015806.1:g.12335G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1359+232G= MANE Select ENSP00000264079.5:n.1359+232G=
ENST00000264079.10:c.1359+232G= ENSP00000264079.5:n.1359+232G=
ENST00000394321.9:n.1674+232G=
ENST00000594692.1:n.355+232G=
ENST00000595860.5:n.542+232G=
ENST00000599334.1:c.236+232G=
NM_020533.2:c.1359+232G= NP_065394.1:n.1359+232G=
NM_020533.3:c.1359+232G= MANE Select NP_065394.1:n.1359+232G=
Search 100 bp 5'
Search 100 bp 3'