Canonical Allele Identifier: CA403085309
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7593524C>A (hg19) chr19:g.7528638C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528638C>A , CM000681.2:g.7528638C>A GRCh38
NC_000019.9:g.7593524C>A , CM000681.1:g.7593524C>A GRCh37
NC_000019.8:g.7499524C>A NCBI36
NG_015806.1:g.11029C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.919C>A MANE Select ENSP00000264079.5:p.Leu307Ile
ENST00000264079.10:c.919C>A ENSP00000264079.5:p.Leu307Ile
ENST00000394321.9:n.1234C>A
NM_020533.2:c.919C>A NP_065394.1:p.Leu307Ile
NM_020533.3:c.919C>A MANE Select NP_065394.1:p.Leu307Ile
Search 100 bp 5'
Search 100 bp 3'