Canonical Allele Identifier: CA403085719
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7593725T>G (hg19) chr19:g.7528839T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528839T>G , CM000681.2:g.7528839T>G GRCh38
NC_000019.9:g.7593725T>G , CM000681.1:g.7593725T>G GRCh37
NC_000019.8:g.7499725T>G NCBI36
NG_015806.1:g.11230T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1003T>G MANE Select ENSP00000264079.5:p.Trp335Gly
ENST00000264079.10:c.1003T>G ENSP00000264079.5:p.Trp335Gly
ENST00000394321.9:n.1318T>G
ENST00000595860.5:n.186T>G
NM_020533.2:c.1003T>G NP_065394.1:p.Trp335Gly
NM_020533.3:c.1003T>G MANE Select NP_065394.1:p.Trp335Gly
Search 100 bp 5'
Search 100 bp 3'