Canonical Allele Identifier: CA2320962041
Gene: MCOLN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526941C= , CM000681.2:g.7526941C= GRCh38
NC_000019.9:g.7591827C= , CM000681.1:g.7591827C= GRCh37
NC_000019.8:g.7497827C= NCBI36
NG_015806.1:g.9332C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.571+15C= MANE Select ENSP00000264079.5:n.571+15C=
ENST00000264079.10:c.571+15C= ENSP00000264079.5:n.571+15C=
ENST00000394321.9:n.651+15C=
ENST00000596008.1:n.548C=
ENST00000598406.1:n.392+15C=
ENST00000601003.1:c.571+15C= ENSP00000469074.1:n.571+15C=
NM_020533.2:c.571+15C= NP_065394.1:n.571+15C=
NM_020533.3:c.571+15C= MANE Select NP_065394.1:n.571+15C=
Search 100 bp 5'
Search 100 bp 3'