Canonical Allele Identifier: CA2320962225
Gene: MCOLN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527270T= , CM000681.2:g.7527270T= GRCh38
NC_000019.9:g.7592156T= , CM000681.1:g.7592156T= GRCh37
NC_000019.8:g.7498156T= NCBI36
NG_015806.1:g.9661T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.572-250T= MANE Select ENSP00000264079.5:n.572-250T=
ENST00000264079.10:c.572-250T= ENSP00000264079.5:n.572-250T=
ENST00000394321.9:n.652-250T=
ENST00000598406.1:n.393-250T=
ENST00000601003.1:c.571+344T= ENSP00000469074.1:n.571+344T=
NM_020533.2:c.572-250T= NP_065394.1:n.572-250T=
NM_020533.3:c.572-250T= MANE Select NP_065394.1:n.572-250T=
Search 100 bp 5'
Search 100 bp 3'