Canonical Allele Identifier: CA2320961878
Gene: MCOLN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526644T= , CM000681.2:g.7526644T= GRCh38
NC_000019.9:g.7591530T= , CM000681.1:g.7591530T= GRCh37
NC_000019.8:g.7497530T= NCBI36
NG_015806.1:g.9035T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.405+38T= MANE Select ENSP00000264079.5:n.405+38T=
ENST00000264079.10:c.405+38T= ENSP00000264079.5:n.405+38T=
ENST00000394321.9:n.485+38T=
ENST00000596008.1:n.367+38T=
ENST00000598406.1:n.226+38T=
ENST00000601003.1:c.405+38T= ENSP00000469074.1:n.405+38T=
NM_020533.2:c.405+38T= NP_065394.1:n.405+38T=
NM_020533.3:c.405+38T= MANE Select NP_065394.1:n.405+38T=
Search 100 bp 5'
Search 100 bp 3'