Canonical Allele Identifier: CA9138598
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 664616
ClinVar RCV Id: RCV000822743
dbSNP Id: rs141168886
ExAC: 19:7589886 C / A
gnomAD v2: 19-7589886-C-A
gnomAD v3: 19-7525000-C-A
gnomAD v4: 19-7525000-C-A
MyVariant Identifiers: chr19:g.7589886C>A (hg19) chr19:g.7525000C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525000C>A , CM000681.2:g.7525000C>A GRCh38
NC_000019.9:g.7589886C>A , CM000681.1:g.7589886C>A GRCh37
NC_000019.8:g.7495886C>A NCBI36
NG_015806.1:g.7391C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.71C>A MANE Select ENSP00000264079.5:p.Thr24Asn
ENST00000264079.10:c.71C>A ENSP00000264079.5:p.Thr24Asn
ENST00000394321.9:n.151C>A
ENST00000596390.1:n.187C>A
ENST00000601003.1:c.71C>A ENSP00000469074.1:p.Thr24Asn
NM_020533.2:c.71C>A NP_065394.1:p.Thr24Asn
NM_020533.3:c.71C>A MANE Select NP_065394.1:p.Thr24Asn
Search 100 bp 5'
Search 100 bp 3'