Canonical Allele Identifier: CA403084439
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7528165-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528165T>A , CM000681.2:g.7528165T>A GRCh38
NC_000019.9:g.7593051T>A , CM000681.1:g.7593051T>A GRCh37
NC_000019.8:g.7499051T>A NCBI36
NG_015806.1:g.10556T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.785T>A MANE Select ENSP00000264079.5:p.Phe262Tyr
ENST00000264079.10:c.785T>A ENSP00000264079.5:p.Phe262Tyr
ENST00000394321.9:n.1100T>A
NM_020533.2:c.785T>A NP_065394.1:p.Phe262Tyr
NM_020533.3:c.785T>A MANE Select NP_065394.1:p.Phe262Tyr