Canonical Allele Identifier: CA9138890
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 330493
ClinVar RCV Id: RCV000368740 RCV001706541
dbSNP Id: rs113261161
ExAC: 19:7592840 C / A
gnomAD v2: 19-7592840-C-A
gnomAD v3: 19-7527954-C-A
gnomAD v4: 19-7527954-C-A
MyVariant Identifiers: chr19:g.7592840C>A (hg19) chr19:g.7527954C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527954C>A , CM000681.2:g.7527954C>A GRCh38
NC_000019.9:g.7592840C>A , CM000681.1:g.7592840C>A GRCh37
NC_000019.8:g.7498840C>A NCBI36
NG_015806.1:g.10345C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.771C>A MANE Select ENSP00000264079.5:p.Ser257Arg
ENST00000264079.10:c.771C>A ENSP00000264079.5:p.Ser257Arg
ENST00000394321.9:n.1086C>A
NM_020533.2:c.771C>A NP_065394.1:p.Ser257Arg
NM_020533.3:c.771C>A MANE Select NP_065394.1:p.Ser257Arg
Search 100 bp 5'
Search 100 bp 3'