Canonical Allele Identifier: CA403092072
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533778T>A , CM000681.2:g.7533778T>A GRCh38
NC_000019.9:g.7598664T>A , CM000681.1:g.7598664T>A GRCh37
NC_000019.8:g.7504664T>A NCBI36
NG_013374.1:g.4627T>A
NG_015806.1:g.16169T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1726T>A MANE Select ENSP00000264079.5:p.Ser576Thr
ENST00000264079.10:c.1726T>A ENSP00000264079.5:p.Ser576Thr
ENST00000394321.9:n.2041T>A
ENST00000599334.1:c.454T>A
ENST00000601870.1:c.79T>A
ENST00000602227.1:n.280T>A
NM_020533.2:c.1726T>A NP_065394.1:p.Ser576Thr
NM_020533.3:c.1726T>A MANE Select NP_065394.1:p.Ser576Thr