Canonical Allele Identifier: CA9138884
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs190389885
ExAC: 19:7592787 A / G
gnomAD v2: 19-7592787-A-G
gnomAD v3: 19-7527901-A-G
gnomAD v4: 19-7527901-A-G
MyVariant Identifiers: chr19:g.7592787A>G (hg19) chr19:g.7527901A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527901A>G , CM000681.2:g.7527901A>G GRCh38
NC_000019.9:g.7592787A>G , CM000681.1:g.7592787A>G GRCh37
NC_000019.8:g.7498787A>G NCBI36
NG_015806.1:g.10292A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.718A>G MANE Select ENSP00000264079.5:p.Ile240Val
ENST00000264079.10:c.718A>G ENSP00000264079.5:p.Ile240Val
ENST00000394321.9:n.1033A>G
NM_020533.2:c.718A>G NP_065394.1:p.Ile240Val
NM_020533.3:c.718A>G MANE Select NP_065394.1:p.Ile240Val
Search 100 bp 5'
Search 100 bp 3'