Canonical Allele Identifier: CA403152720
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7589958T>A (hg19) chr19:g.7525072T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525072T>A , CM000681.2:g.7525072T>A GRCh38
NC_000019.9:g.7589958T>A , CM000681.1:g.7589958T>A GRCh37
NC_000019.8:g.7495958T>A NCBI36
NG_015806.1:g.7463T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.143T>A MANE Select ENSP00000264079.5:p.Phe48Tyr
ENST00000264079.10:c.143T>A ENSP00000264079.5:p.Phe48Tyr
ENST00000394321.9:n.223T>A
ENST00000596390.1:n.259T>A
ENST00000601003.1:c.143T>A ENSP00000469074.1:p.Phe48Tyr
NM_020533.2:c.143T>A NP_065394.1:p.Phe48Tyr
NM_020533.3:c.143T>A MANE Select NP_065394.1:p.Phe48Tyr
Search 100 bp 5'
Search 100 bp 3'