Canonical Allele Identifier: CA9138642
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 737005
ClinVar RCV Id: RCV000912720 RCV003950769
dbSNP Id: rs369176493
ExAC: 19:7590031 G / A
gnomAD v2: 19-7590031-G-A
gnomAD v3: 19-7525145-G-A
gnomAD v4: 19-7525145-G-A
MyVariant Identifiers: chr19:g.7590031G>A (hg19) chr19:g.7525145G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525145G>A , CM000681.2:g.7525145G>A GRCh38
NC_000019.9:g.7590031G>A , CM000681.1:g.7590031G>A GRCh37
NC_000019.8:g.7496031G>A NCBI36
NG_015806.1:g.7536G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.216G>A MANE Select ENSP00000264079.5:p.Lys72=
ENST00000264079.10:c.216G>A ENSP00000264079.5:p.Lys72=
ENST00000394321.9:n.296G>A
ENST00000596390.1:n.332G>A
ENST00000601003.1:c.216G>A ENSP00000469074.1:p.Lys72=
NM_020533.2:c.216G>A NP_065394.1:p.Lys72=
NM_020533.3:c.216G>A MANE Select NP_065394.1:p.Lys72=
Search 100 bp 5'
Search 100 bp 3'