Canonical Allele Identifier: CA403152976
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525140G>A , CM000681.2:g.7525140G>A GRCh38
NC_000019.9:g.7590026G>A , CM000681.1:g.7590026G>A GRCh37
NC_000019.8:g.7496026G>A NCBI36
NG_015806.1:g.7531G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.211G>A MANE Select ENSP00000264079.5:p.Val71Ile
ENST00000264079.10:c.211G>A ENSP00000264079.5:p.Val71Ile
ENST00000394321.9:n.291G>A
ENST00000596390.1:n.327G>A
ENST00000601003.1:c.211G>A ENSP00000469074.1:p.Val71Ile
NM_020533.2:c.211G>A NP_065394.1:p.Val71Ile
NM_020533.3:c.211G>A MANE Select NP_065394.1:p.Val71Ile