Canonical Allele Identifier: CA2320962774
Gene: MCOLN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528367G= , CM000681.2:g.7528367G= GRCh38
NC_000019.9:g.7593253G= , CM000681.1:g.7593253G= GRCh37
NC_000019.8:g.7499253G= NCBI36
NG_015806.1:g.10758G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.877+110G= MANE Select ENSP00000264079.5:n.877+110G=
ENST00000264079.10:c.877+110G= ENSP00000264079.5:n.877+110G=
ENST00000394321.9:n.1192+110G=
NM_020533.2:c.877+110G= NP_065394.1:n.877+110G=
NM_020533.3:c.877+110G= MANE Select NP_065394.1:n.877+110G=