Canonical Allele Identifier: CA2320961890
Gene: MCOLN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526657G= , CM000681.2:g.7526657G= GRCh38
NC_000019.9:g.7591543G= , CM000681.1:g.7591543G= GRCh37
NC_000019.8:g.7497543G= NCBI36
NG_015806.1:g.9048G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.405+51G= MANE Select ENSP00000264079.5:n.405+51G=
ENST00000264079.10:c.405+51G= ENSP00000264079.5:n.405+51G=
ENST00000394321.9:n.485+51G=
ENST00000596008.1:n.367+51G=
ENST00000598406.1:n.226+51G=
ENST00000601003.1:c.405+51G= ENSP00000469074.1:n.405+51G=
NM_020533.2:c.405+51G= NP_065394.1:n.405+51G=
NM_020533.3:c.405+51G= MANE Select NP_065394.1:n.405+51G=
Search 100 bp 5'
Search 100 bp 3'