Canonical Allele Identifier: CA9139023
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 459178
ClinVar RCV Id: RCV000526709 RCV003905347
dbSNP Id: rs200417975
ExAC: 19:7593799 C / T
gnomAD v2: 19-7593799-C-T
gnomAD v3: 19-7528913-C-T
gnomAD v4: 19-7528913-C-T
MyVariant Identifiers: chr19:g.7593799C>T (hg19) chr19:g.7528913C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528913C>T , CM000681.2:g.7528913C>T GRCh38
NC_000019.9:g.7593799C>T , CM000681.1:g.7593799C>T GRCh37
NC_000019.8:g.7499799C>T NCBI36
NG_015806.1:g.11304C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1077C>T MANE Select ENSP00000264079.5:p.Val359=
ENST00000264079.10:c.1077C>T ENSP00000264079.5:p.Val359=
ENST00000394321.9:n.1392C>T
ENST00000595860.5:n.260C>T
NM_020533.2:c.1077C>T NP_065394.1:p.Val359=
NM_020533.3:c.1077C>T MANE Select NP_065394.1:p.Val359=
Search 100 bp 5'
Search 100 bp 3'