Canonical Allele Identifier: CA9138592
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 330486
ClinVar RCV Id: RCV000291014 RCV003409526
dbSNP Id: rs202247664
ExAC: 19:7589875 C / T
gnomAD v2: 19-7589875-C-T
gnomAD v3: 19-7524989-C-T
gnomAD v4: 19-7524989-C-T
MyVariant Identifiers: chr19:g.7589875C>T (hg19) chr19:g.7524989C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7524989C>T , CM000681.2:g.7524989C>T GRCh38
NC_000019.9:g.7589875C>T , CM000681.1:g.7589875C>T GRCh37
NC_000019.8:g.7495875C>T NCBI36
NG_015806.1:g.7380C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.60C>T MANE Select ENSP00000264079.5:p.Pro20=
ENST00000264079.10:c.60C>T ENSP00000264079.5:p.Pro20=
ENST00000394321.9:n.140C>T
ENST00000596390.1:n.176C>T
ENST00000601003.1:c.60C>T ENSP00000469074.1:p.Pro20=
NM_020533.2:c.60C>T NP_065394.1:p.Pro20=
NM_020533.3:c.60C>T MANE Select NP_065394.1:p.Pro20=
Search 100 bp 5'
Search 100 bp 3'