Canonical Allele Identifier: CA403084862
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528232T>G , CM000681.2:g.7528232T>G GRCh38
NC_000019.9:g.7593118T>G , CM000681.1:g.7593118T>G GRCh37
NC_000019.8:g.7499118T>G NCBI36
NG_015806.1:g.10623T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.852T>G MANE Select ENSP00000264079.5:p.Cys284Trp
ENST00000264079.10:c.852T>G ENSP00000264079.5:p.Cys284Trp
ENST00000394321.9:n.1167T>G
NM_020533.2:c.852T>G NP_065394.1:p.Cys284Trp
NM_020533.3:c.852T>G MANE Select NP_065394.1:p.Cys284Trp