Canonical Allele Identifier: CA505231007
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7593103C>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528217C>G , CM000681.2:g.7528217C>G GRCh38
NC_000019.9:g.7593103C>G , CM000681.1:g.7593103C>G GRCh37
NC_000019.8:g.7499103C>G NCBI36
NG_015806.1:g.10608C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.837C>G MANE Select ENSP00000264079.5:p.Ala279=
ENST00000264079.10:c.837C>G ENSP00000264079.5:p.Ala279=
ENST00000394321.9:n.1152C>G
NM_020533.2:c.837C>G NP_065394.1:p.Ala279=
NM_020533.3:c.837C>G MANE Select NP_065394.1:p.Ala279=
Search 100 bp 5'
Search 100 bp 3'