Canonical Allele Identifier: CA505232299
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 745778
ClinVar RCV Id: RCV003505143
dbSNP Id: rs1599252438
gnomAD v4: 19-7525163-G-A
MyVariant Identifiers: chr19:g.7590049G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525163G>A , CM000681.2:g.7525163G>A GRCh38
NC_000019.9:g.7590049G>A , CM000681.1:g.7590049G>A GRCh37
NC_000019.8:g.7496049G>A NCBI36
NG_015806.1:g.7554G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.234G>A MANE Select ENSP00000264079.5:p.Val78=
ENST00000264079.10:c.234G>A ENSP00000264079.5:p.Val78=
ENST00000394321.9:n.314G>A
ENST00000596390.1:n.350G>A
ENST00000601003.1:c.234G>A ENSP00000469074.1:p.Val78=
NM_020533.2:c.234G>A NP_065394.1:p.Val78=
NM_020533.3:c.234G>A MANE Select NP_065394.1:p.Val78=
Search 100 bp 5'
Search 100 bp 3'