Canonical Allele Identifier: CA2320962808
Gene: MCOLN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528440A= , CM000681.2:g.7528440A= GRCh38
NC_000019.9:g.7593326A= , CM000681.1:g.7593326A= GRCh37
NC_000019.8:g.7499326A= NCBI36
NG_015806.1:g.10831A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.878-157A= MANE Select ENSP00000264079.5:n.878-157A=
ENST00000264079.10:c.878-157A= ENSP00000264079.5:n.878-157A=
ENST00000394321.9:n.1193-157A=
NM_020533.2:c.878-157A= NP_065394.1:n.878-157A=
NM_020533.3:c.878-157A= MANE Select NP_065394.1:n.878-157A=