Canonical Allele Identifier: CA9139149
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2416459
ClinVar RCV Id: RCV003107208
dbSNP Id: rs748976085
ExAC: 19:7595222 G / T
gnomAD v2: 19-7595222-G-T
gnomAD v4: 19-7530336-G-T
MyVariant Identifiers: chr19:g.7595222G>T (hg19) chr19:g.7530336G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530336G>T , CM000681.2:g.7530336G>T GRCh38
NC_000019.9:g.7595222G>T , CM000681.1:g.7595222G>T GRCh37
NC_000019.8:g.7501222G>T NCBI36
NG_013374.1:g.1185G>T
NG_015806.1:g.12727G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1410G>T MANE Select ENSP00000264079.5:p.Gly470=
ENST00000264079.10:c.1410G>T ENSP00000264079.5:p.Gly470=
ENST00000394321.9:n.1725G>T
ENST00000594692.1:n.406G>T
ENST00000595860.5:n.593G>T
ENST00000599334.1:c.237-99G>T
NM_020533.2:c.1410G>T NP_065394.1:p.Gly470=
NM_020533.3:c.1410G>T MANE Select NP_065394.1:p.Gly470=
Search 100 bp 5'
Search 100 bp 3'