Canonical Allele Identifier: CA2320962630
Gene: MCOLN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528062G= , CM000681.2:g.7528062G= GRCh38
NC_000019.9:g.7592948G= , CM000681.1:g.7592948G= GRCh37
NC_000019.8:g.7498948G= NCBI36
NG_015806.1:g.10453G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.778-96G= MANE Select ENSP00000264079.5:n.778-96G=
ENST00000264079.10:c.778-96G= ENSP00000264079.5:n.778-96G=
ENST00000394321.9:n.1093-96G=
NM_020533.2:c.778-96G= NP_065394.1:n.778-96G=
NM_020533.3:c.778-96G= MANE Select NP_065394.1:n.778-96G=