Canonical Allele Identifier: CA2813476098
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533482G>A , CM000681.2:g.7533482G>A GRCh38
NC_000019.9:g.7598368G>A , CM000681.1:g.7598368G>A GRCh37
NC_000019.8:g.7504368G>A NCBI36
NG_013374.1:g.4331G>A
NG_015806.1:g.15873G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1576-41G>A MANE Select ENSP00000264079.5:n.1576-41G>A
ENST00000264079.10:c.1576-41G>A ENSP00000264079.5:n.1576-41G>A
ENST00000394321.9:n.1891-41G>A
ENST00000599334.1:c.304-41G>A
ENST00000602227.1:n.89G>A
NM_020533.2:c.1576-41G>A NP_065394.1:n.1576-41G>A
NM_020533.3:c.1576-41G>A MANE Select NP_065394.1:n.1576-41G>A
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