Canonical Allele Identifier: CA505230977
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2847638
ClinVar RCV Id: RCV003614670
dbSNP Id: rs1249452744
gnomAD v2: 19-7593088-C-T
gnomAD v4: 19-7528202-C-T
MyVariant Identifiers: chr19:g.7593088C>T (hg19) chr19:g.7528202C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528202C>T , CM000681.2:g.7528202C>T GRCh38
NC_000019.9:g.7593088C>T , CM000681.1:g.7593088C>T GRCh37
NC_000019.8:g.7499088C>T NCBI36
NG_015806.1:g.10593C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.822C>T MANE Select ENSP00000264079.5:p.Ser274=
ENST00000264079.10:c.822C>T ENSP00000264079.5:p.Ser274=
ENST00000394321.9:n.1137C>T
NM_020533.2:c.822C>T NP_065394.1:p.Ser274=
NM_020533.3:c.822C>T MANE Select NP_065394.1:p.Ser274=
Search 100 bp 5'
Search 100 bp 3'