Canonical Allele Identifier: CA2320962439
Gene: MCOLN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527691C= , CM000681.2:g.7527691C= GRCh38
NC_000019.9:g.7592577C= , CM000681.1:g.7592577C= GRCh37
NC_000019.8:g.7498577C= NCBI36
NG_015806.1:g.10082C=

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.680+63C= MANE Select ENSP00000264079.5:n.680+63C=
ENST00000264079.10:c.680+63C= ENSP00000264079.5:n.680+63C=
ENST00000394321.9:n.823C=
ENST00000598406.1:n.564C=
ENST00000601003.1:c.572-173C= ENSP00000469074.1:n.572-173C=
NM_020533.2:c.680+63C= NP_065394.1:n.680+63C=
NM_020533.3:c.680+63C= MANE Select NP_065394.1:n.680+63C=
Search 100 bp 5'
Search 100 bp 3'