Canonical Allele Identifier: CA505226300
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1145778
ClinVar RCV Id: RCV001484821
dbSNP Id: rs2146022404
gnomAD v4: 19-7526453-G-A
MyVariant Identifiers: chr19:g.7591339G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526453G>A , CM000681.2:g.7526453G>A GRCh38
NC_000019.9:g.7591339G>A , CM000681.1:g.7591339G>A GRCh37
NC_000019.8:g.7497339G>A NCBI36
NG_015806.1:g.8844G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.252G>A MANE Select ENSP00000264079.5:p.Gly84=
ENST00000264079.10:c.252G>A ENSP00000264079.5:p.Gly84=
ENST00000394321.9:n.332G>A
ENST00000596008.1:n.214G>A
ENST00000598406.1:n.73G>A
ENST00000601003.1:c.252G>A ENSP00000469074.1:p.Gly84=
NM_020533.2:c.252G>A NP_065394.1:p.Gly84=
NM_020533.3:c.252G>A MANE Select NP_065394.1:p.Gly84=
Search 100 bp 5'
Search 100 bp 3'