Canonical Allele Identifier: CA9138923
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2041828
ClinVar RCV Id: RCV002903276
dbSNP Id: rs762770801
ExAC: 19:7593104 C / T
gnomAD v2: 19-7593104-C-T
gnomAD v3: 19-7528218-C-T
gnomAD v4: 19-7528218-C-T
COSMIC: COSM124369
MyVariant Identifiers: chr19:g.7593104C>T (hg19) chr19:g.7528218C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528218C>T , CM000681.2:g.7528218C>T GRCh38
NC_000019.9:g.7593104C>T , CM000681.1:g.7593104C>T GRCh37
NC_000019.8:g.7499104C>T NCBI36
NG_015806.1:g.10609C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.838C>T MANE Select ENSP00000264079.5:p.His280Tyr
ENST00000264079.10:c.838C>T ENSP00000264079.5:p.His280Tyr
ENST00000394321.9:n.1153C>T
NM_020533.2:c.838C>T NP_065394.1:p.His280Tyr
NM_020533.3:c.838C>T MANE Select NP_065394.1:p.His280Tyr
Search 100 bp 5'
Search 100 bp 3'