Canonical Allele Identifier: CA403081167
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs142259322
gnomAD v2: 19-7591654-C-A
gnomAD v4: 19-7526768-C-A
MyVariant Identifiers: chr19:g.7591654C>A (hg19) chr19:g.7526768C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526768C>A , CM000681.2:g.7526768C>A GRCh38
NC_000019.9:g.7591654C>A , CM000681.1:g.7591654C>A GRCh37
NC_000019.8:g.7497654C>A NCBI36
NG_015806.1:g.9159C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.413C>A MANE Select ENSP00000264079.5:p.Ala138Glu
ENST00000264079.10:c.413C>A ENSP00000264079.5:p.Ala138Glu
ENST00000394321.9:n.493C>A
ENST00000596008.1:n.375C>A
ENST00000598406.1:n.234C>A
ENST00000601003.1:c.413C>A ENSP00000469074.1:p.Ala138Glu
NM_020533.2:c.413C>A NP_065394.1:p.Ala138Glu
NM_020533.3:c.413C>A MANE Select NP_065394.1:p.Ala138Glu
Search 100 bp 5'
Search 100 bp 3'