Canonical Allele Identifier: CA2320961121
Gene: MCOLN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7524959A= , CM000681.2:g.7524959A= GRCh38
NC_000019.9:g.7589845A= , CM000681.1:g.7589845A= GRCh37
NC_000019.8:g.7495845A= NCBI36
NG_015806.1:g.7350A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.32-2A= MANE Select ENSP00000264079.5:n.32-2A=
ENST00000264079.10:c.32-2A= ENSP00000264079.5:n.32-2A=
ENST00000394321.9:n.112-2A=
ENST00000596390.1:n.148-2A=
ENST00000601003.1:c.32-2A= ENSP00000469074.1:n.32-2A=
NM_020533.2:c.32-2A= NP_065394.1:n.32-2A=
XR_936293.2:n.22T=
XR_936294.2:n.22T=
NM_020533.3:c.32-2A= MANE Select NP_065394.1:n.32-2A=