Canonical Allele Identifier: CA2320961923
Gene: MCOLN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526691G= , CM000681.2:g.7526691G= GRCh38
NC_000019.9:g.7591577G= , CM000681.1:g.7591577G= GRCh37
NC_000019.8:g.7497577G= NCBI36
NG_015806.1:g.9082G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.406-70G= MANE Select ENSP00000264079.5:n.406-70G=
ENST00000264079.10:c.406-70G= ENSP00000264079.5:n.406-70G=
ENST00000394321.9:n.486-70G=
ENST00000596008.1:n.368-70G=
ENST00000598406.1:n.227-70G=
ENST00000601003.1:c.406-70G= ENSP00000469074.1:n.406-70G=
NM_020533.2:c.406-70G= NP_065394.1:n.406-70G=
NM_020533.3:c.406-70G= MANE Select NP_065394.1:n.406-70G=