Canonical Allele Identifier: CA2320962805
Gene: MCOLN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528429G= , CM000681.2:g.7528429G= GRCh38
NC_000019.9:g.7593315G= , CM000681.1:g.7593315G= GRCh37
NC_000019.8:g.7499315G= NCBI36
NG_015806.1:g.10820G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.878-168G= MANE Select ENSP00000264079.5:n.878-168G=
ENST00000264079.10:c.878-168G= ENSP00000264079.5:n.878-168G=
ENST00000394321.9:n.1193-168G=
NM_020533.2:c.878-168G= NP_065394.1:n.878-168G=
NM_020533.3:c.878-168G= MANE Select NP_065394.1:n.878-168G=