Canonical Allele Identifier: CA505230458
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1113480
ClinVar RCV Id: RCV001440877
dbSNP Id: rs1302834128
gnomAD v4: 19-7527587-A-G
MyVariant Identifiers: chr19:g.7592473A>G (hg19) chr19:g.7527587A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527587A>G , CM000681.2:g.7527587A>G GRCh38
NC_000019.9:g.7592473A>G , CM000681.1:g.7592473A>G GRCh37
NC_000019.8:g.7498473A>G NCBI36
NG_015806.1:g.9978A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.639A>G MANE Select ENSP00000264079.5:p.Glu213=
ENST00000264079.10:c.639A>G ENSP00000264079.5:p.Glu213=
ENST00000394321.9:n.719A>G
ENST00000598406.1:n.460A>G
ENST00000601003.1:c.572-277A>G ENSP00000469074.1:n.572-277A>G
NM_020533.2:c.639A>G NP_065394.1:p.Glu213=
NM_020533.3:c.639A>G MANE Select NP_065394.1:p.Glu213=
Search 100 bp 5'
Search 100 bp 3'