Canonical Allele Identifier: CA2320962970
Gene: MCOLN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528783G= , CM000681.2:g.7528783G= GRCh38
NC_000019.9:g.7593669G= , CM000681.1:g.7593669G= GRCh37
NC_000019.8:g.7499669G= NCBI36
NG_015806.1:g.11174G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.985-38G= MANE Select ENSP00000264079.5:n.985-38G=
ENST00000264079.10:c.985-38G= ENSP00000264079.5:n.985-38G=
ENST00000394321.9:n.1300-38G=
ENST00000595860.5:n.130G=
NM_020533.2:c.985-38G= NP_065394.1:n.985-38G=
NM_020533.3:c.985-38G= MANE Select NP_065394.1:n.985-38G=
Search 100 bp 5'
Search 100 bp 3'