Canonical Allele Identifier: CA2320963052
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528945T= , CM000681.2:g.7528945T= GRCh38
NC_000019.9:g.7593831T= , CM000681.1:g.7593831T= GRCh37
NC_000019.8:g.7499831T= NCBI36
NG_015806.1:g.11336T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1109T= MANE Select ENSP00000264079.5:p.Ile370=
ENST00000264079.10:c.1109T= ENSP00000264079.5:p.Ile370=
ENST00000394321.9:n.1424T=
ENST00000595860.5:n.292T=
NM_020533.2:c.1109T= NP_065394.1:p.Ile370=
NM_020533.3:c.1109T= MANE Select NP_065394.1:p.Ile370=
Search 100 bp 5'
Search 100 bp 3'