Canonical Allele Identifier: CA2320965649
Gene: MCOLN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533955T= , CM000681.2:g.7533955T= GRCh38
NC_000019.9:g.7598841T= , CM000681.1:g.7598841T= GRCh37
NC_000019.8:g.7504841T= NCBI36
NG_013374.1:g.4804T=
NG_015806.1:g.16346T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*160T= MANE Select ENSP00000264079.5:n.*160T=
ENST00000264079.10:c.*160T= ENSP00000264079.5:n.*160T=
ENST00000394321.9:n.2218T=
ENST00000599334.1:c.631T=
ENST00000601870.1:c.169+87T=
ENST00000602227.1:n.457T=
NM_020533.2:c.*160T= NP_065394.1:n.*160T=
NM_020533.3:c.*160T= MANE Select NP_065394.1:n.*160T=
Search 100 bp 5'
Search 100 bp 3'