Canonical Allele Identifier: CA9138706
Gene: MCOLN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 419813
ClinVar RCV Id: RCV000485641
dbSNP Id: rs148748724

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526607G>A , CM000681.2:g.7526607G>A GRCh38
NC_000019.9:g.7591493G>A , CM000681.1:g.7591493G>A GRCh37
NC_000019.8:g.7497493G>A NCBI36
NG_015806.1:g.8998G>A

Transcript Alleles

HGVS Amino-acid change
NM_020533.2:c.405+1G>A VV NP_065394.1:p.=
NM_020533.3:c.405+1G>A VV MANE Preferred
ENST00000264079.10:c.405+1G>A ENSP00000264079.5:p.=
ENST00000394321.9:n.485+1G>A
ENST00000596008.1:n.367+1G>A
ENST00000598406.1:n.226+1G>A
ENST00000601003.1:c.405+1G>A ENSP00000469074.1:p.=