Canonical Allele Identifier: CA2320965536
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533750T= , CM000681.2:g.7533750T= GRCh38
NC_000019.9:g.7598636T= , CM000681.1:g.7598636T= GRCh37
NC_000019.8:g.7504636T= NCBI36
NG_013374.1:g.4599T=
NG_015806.1:g.16141T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1707-9T= MANE Select ENSP00000264079.5:n.1707-9T=
ENST00000264079.10:c.1707-9T= ENSP00000264079.5:n.1707-9T=
ENST00000394321.9:n.2022-9T=
ENST00000599334.1:c.435-9T=
ENST00000601870.1:c.60-9T=
ENST00000602227.1:n.261-9T=
NM_020533.2:c.1707-9T= NP_065394.1:n.1707-9T=
NM_020533.3:c.1707-9T= MANE Select NP_065394.1:n.1707-9T=
Search 100 bp 5'
Search 100 bp 3'