Canonical Allele Identifier: CA2320961226
Gene: MCOLN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525040A= , CM000681.2:g.7525040A= GRCh38
NC_000019.9:g.7589926A= , CM000681.1:g.7589926A= GRCh37
NC_000019.8:g.7495926A= NCBI36
NG_015806.1:g.7431A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.111A= MANE Select ENSP00000264079.5:p.Glu37=
ENST00000264079.10:c.111A= ENSP00000264079.5:p.Glu37=
ENST00000394321.9:n.191A=
ENST00000596390.1:n.227A=
ENST00000601003.1:c.111A= ENSP00000469074.1:p.Glu37=
NM_020533.2:c.111A= NP_065394.1:p.Glu37=
NM_020533.3:c.111A= MANE Select NP_065394.1:p.Glu37=