Canonical Allele Identifier: CA340344
Gene: MCOLN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 5135
ClinVar RCV Id: RCV000005442
dbSNP Id: rs121908372

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528920G>T , CM000681.2:g.7528920G>T GRCh38
NC_000019.9:g.7593806G>T , CM000681.1:g.7593806G>T GRCh37
NC_000019.8:g.7499806G>T NCBI36
NG_015806.1:g.11311G>T

Transcript Alleles

HGVS Amino-acid change
NM_020533.2:c.1084G>T VV NP_065394.1:p.Asp362Tyr
NM_020533.3:c.1084G>T VV MANE Preferred NP_065394.1:p.Asp362Tyr
ENST00000264079.10:c.1084G>T ENSP00000264079.5:p.Asp362Tyr
ENST00000394321.9:n.1399G>T
ENST00000595860.5:n.267G>T