Canonical Allele Identifier: CA403084991
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7593139G>C (hg19) chr19:g.7528253G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528253G>C , CM000681.2:g.7528253G>C GRCh38
NC_000019.9:g.7593139G>C , CM000681.1:g.7593139G>C GRCh37
NC_000019.8:g.7499139G>C NCBI36
NG_015806.1:g.10644G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.873G>C MANE Select ENSP00000264079.5:p.Gln291His
ENST00000264079.10:c.873G>C ENSP00000264079.5:p.Gln291His
ENST00000394321.9:n.1188G>C
NM_020533.2:c.873G>C NP_065394.1:p.Gln291His
NM_020533.3:c.873G>C MANE Select NP_065394.1:p.Gln291His
Search 100 bp 5'
Search 100 bp 3'