Canonical Allele Identifier: CA403082491
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527622T>A , CM000681.2:g.7527622T>A GRCh38
NC_000019.9:g.7592508T>A , CM000681.1:g.7592508T>A GRCh37
NC_000019.8:g.7498508T>A NCBI36
NG_015806.1:g.10013T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.674T>A MANE Select ENSP00000264079.5:p.Phe225Tyr
ENST00000264079.10:c.674T>A ENSP00000264079.5:p.Phe225Tyr
ENST00000394321.9:n.754T>A
ENST00000598406.1:n.495T>A
ENST00000601003.1:c.572-242T>A ENSP00000469074.1:n.572-242T>A
NM_020533.2:c.674T>A NP_065394.1:p.Phe225Tyr
NM_020533.3:c.674T>A MANE Select NP_065394.1:p.Phe225Tyr