Canonical Allele Identifier: CA505230353
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1102545
ClinVar RCV Id: RCV001425890
dbSNP Id: rs2146023464
gnomAD v4: 19-7527545-G-A
MyVariant Identifiers: chr19:g.7592431G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527545G>A , CM000681.2:g.7527545G>A GRCh38
NC_000019.9:g.7592431G>A , CM000681.1:g.7592431G>A GRCh37
NC_000019.8:g.7498431G>A NCBI36
NG_015806.1:g.9936G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.597G>A MANE Select ENSP00000264079.5:p.Glu199=
ENST00000264079.10:c.597G>A ENSP00000264079.5:p.Glu199=
ENST00000394321.9:n.677G>A
ENST00000598406.1:n.418G>A
ENST00000601003.1:c.572-319G>A ENSP00000469074.1:n.572-319G>A
NM_020533.2:c.597G>A NP_065394.1:p.Glu199=
NM_020533.3:c.597G>A MANE Select NP_065394.1:p.Glu199=
Search 100 bp 5'
Search 100 bp 3'