Canonical Allele Identifier: CA2320961918
Gene: MCOLN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526687G= , CM000681.2:g.7526687G= GRCh38
NC_000019.9:g.7591573G= , CM000681.1:g.7591573G= GRCh37
NC_000019.8:g.7497573G= NCBI36
NG_015806.1:g.9078G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.406-74G= MANE Select ENSP00000264079.5:n.406-74G=
ENST00000264079.10:c.406-74G= ENSP00000264079.5:n.406-74G=
ENST00000394321.9:n.486-74G=
ENST00000596008.1:n.368-74G=
ENST00000598406.1:n.227-74G=
ENST00000601003.1:c.406-74G= ENSP00000469074.1:n.406-74G=
NM_020533.2:c.406-74G= NP_065394.1:n.406-74G=
NM_020533.3:c.406-74G= MANE Select NP_065394.1:n.406-74G=