Canonical Allele Identifier: CA2320965533
Gene: MCOLN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533745C= , CM000681.2:g.7533745C= GRCh38
NC_000019.9:g.7598631C= , CM000681.1:g.7598631C= GRCh37
NC_000019.8:g.7504631C= NCBI36
NG_013374.1:g.4594C=
NG_015806.1:g.16136C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1707-14C= MANE Select ENSP00000264079.5:n.1707-14C=
ENST00000264079.10:c.1707-14C= ENSP00000264079.5:n.1707-14C=
ENST00000394321.9:n.2022-14C=
ENST00000599334.1:c.435-14C=
ENST00000601870.1:c.60-14C=
ENST00000602227.1:n.261-14C=
NM_020533.2:c.1707-14C= NP_065394.1:n.1707-14C=
NM_020533.3:c.1707-14C= MANE Select NP_065394.1:n.1707-14C=
Search 100 bp 5'
Search 100 bp 3'