Canonical Allele Identifier: CA403152380
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7589873C>A (hg19) chr19:g.7524987C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7524987C>A , CM000681.2:g.7524987C>A GRCh38
NC_000019.9:g.7589873C>A , CM000681.1:g.7589873C>A GRCh37
NC_000019.8:g.7495873C>A NCBI36
NG_015806.1:g.7378C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.58C>A MANE Select ENSP00000264079.5:p.Pro20Thr
ENST00000264079.10:c.58C>A ENSP00000264079.5:p.Pro20Thr
ENST00000394321.9:n.138C>A
ENST00000596390.1:n.174C>A
ENST00000601003.1:c.58C>A ENSP00000469074.1:p.Pro20Thr
NM_020533.2:c.58C>A NP_065394.1:p.Pro20Thr
NM_020533.3:c.58C>A MANE Select NP_065394.1:p.Pro20Thr
Search 100 bp 5'
Search 100 bp 3'