Canonical Allele Identifier: CA403152990
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7590032A>G (hg19) chr19:g.7525146A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525146A>G , CM000681.2:g.7525146A>G GRCh38
NC_000019.9:g.7590032A>G , CM000681.1:g.7590032A>G GRCh37
NC_000019.8:g.7496032A>G NCBI36
NG_015806.1:g.7537A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.217A>G MANE Select ENSP00000264079.5:p.Ile73Val
ENST00000264079.10:c.217A>G ENSP00000264079.5:p.Ile73Val
ENST00000394321.9:n.297A>G
ENST00000596390.1:n.333A>G
ENST00000601003.1:c.217A>G ENSP00000469074.1:p.Ile73Val
NM_020533.2:c.217A>G NP_065394.1:p.Ile73Val
NM_020533.3:c.217A>G MANE Select NP_065394.1:p.Ile73Val
Search 100 bp 5'
Search 100 bp 3'