Canonical Allele Identifier: CA2320962120
Gene: MCOLN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527090C= , CM000681.2:g.7527090C= GRCh38
NC_000019.9:g.7591976C= , CM000681.1:g.7591976C= GRCh37
NC_000019.8:g.7497976C= NCBI36
NG_015806.1:g.9481C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.571+164C= MANE Select ENSP00000264079.5:n.571+164C=
ENST00000264079.10:c.571+164C= ENSP00000264079.5:n.571+164C=
ENST00000394321.9:n.651+164C=
ENST00000596008.1:n.697C=
ENST00000598406.1:n.392+164C=
ENST00000601003.1:c.571+164C= ENSP00000469074.1:n.571+164C=
NM_020533.2:c.571+164C= NP_065394.1:n.571+164C=
NM_020533.3:c.571+164C= MANE Select NP_065394.1:n.571+164C=
Search 100 bp 5'
Search 100 bp 3'