Canonical Allele Identifier: CA2320965615
Gene: MCOLN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533895C= , CM000681.2:g.7533895C= GRCh38
NC_000019.9:g.7598781C= , CM000681.1:g.7598781C= GRCh37
NC_000019.8:g.7504781C= NCBI36
NG_013374.1:g.4744C=
NG_015806.1:g.16286C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*100C= MANE Select ENSP00000264079.5:n.*100C=
ENST00000264079.10:c.*100C= ENSP00000264079.5:n.*100C=
ENST00000394321.9:n.2158C=
ENST00000599334.1:c.571C=
ENST00000601870.1:c.169+27C=
ENST00000602227.1:n.397C=
NM_020533.2:c.*100C= NP_065394.1:n.*100C=
NM_020533.3:c.*100C= MANE Select NP_065394.1:n.*100C=
Search 100 bp 5'
Search 100 bp 3'