Canonical Allele Identifier: CA9138879
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs760341727
ExAC: 19:7592766 A / G
MyVariant Identifiers: chr19:g.7592766A>G (hg19) chr19:g.7527880A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527880A>G , CM000681.2:g.7527880A>G GRCh38
NC_000019.9:g.7592766A>G , CM000681.1:g.7592766A>G GRCh37
NC_000019.8:g.7498766A>G NCBI36
NG_015806.1:g.10271A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.697A>G MANE Select ENSP00000264079.5:p.Ile233Val
ENST00000264079.10:c.697A>G ENSP00000264079.5:p.Ile233Val
ENST00000394321.9:n.1012A>G
ENST00000601003.1:c.588A>G ENSP00000469074.1:p.Pro196=
NM_020533.2:c.697A>G NP_065394.1:p.Ile233Val
NM_020533.3:c.697A>G MANE Select NP_065394.1:p.Ile233Val
Search 100 bp 5'
Search 100 bp 3'