Canonical Allele Identifier: CA2320962702
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528226G= , CM000681.2:g.7528226G= GRCh38
NC_000019.9:g.7593112G= , CM000681.1:g.7593112G= GRCh37
NC_000019.8:g.7499112G= NCBI36
NG_015806.1:g.10617G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.846G= MANE Select ENSP00000264079.5:p.Gln282=
ENST00000264079.10:c.846G= ENSP00000264079.5:p.Gln282=
ENST00000394321.9:n.1161G=
NM_020533.2:c.846G= NP_065394.1:p.Gln282=
NM_020533.3:c.846G= MANE Select NP_065394.1:p.Gln282=
Search 100 bp 5'
Search 100 bp 3'