Canonical Allele Identifier: CA9138888
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 727774
ClinVar RCV Id: RCV001405535
dbSNP Id: rs756314123
ExAC: 19:7592822 G / A
gnomAD v2: 19-7592822-G-A
gnomAD v3: 19-7527936-G-A
gnomAD v4: 19-7527936-G-A
MyVariant Identifiers: chr19:g.7592822G>A (hg19) chr19:g.7527936G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527936G>A , CM000681.2:g.7527936G>A GRCh38
NC_000019.9:g.7592822G>A , CM000681.1:g.7592822G>A GRCh37
NC_000019.8:g.7498822G>A NCBI36
NG_015806.1:g.10327G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.753G>A MANE Select ENSP00000264079.5:p.Pro251=
ENST00000264079.10:c.753G>A ENSP00000264079.5:p.Pro251=
ENST00000394321.9:n.1068G>A
NM_020533.2:c.753G>A NP_065394.1:p.Pro251=
NM_020533.3:c.753G>A MANE Select NP_065394.1:p.Pro251=
Search 100 bp 5'
Search 100 bp 3'