Canonical Allele Identifier: CA9138581
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 558938
ClinVar RCV Id: RCV000675735 RCV001084440
dbSNP Id: rs371191277
ExAC: 19:7589837 A / G
gnomAD v2: 19-7589837-A-G
gnomAD v3: 19-7524951-A-G
gnomAD v4: 19-7524951-A-G
MyVariant Identifiers: chr19:g.7589837A>G (hg19) chr19:g.7524951A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7524951A>G , CM000681.2:g.7524951A>G GRCh38
NC_000019.9:g.7589837A>G , CM000681.1:g.7589837A>G GRCh37
NC_000019.8:g.7495837A>G NCBI36
NG_015806.1:g.7342A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.32-10A>G MANE Select ENSP00000264079.5:n.32-10A>G
ENST00000264079.10:c.32-10A>G ENSP00000264079.5:n.32-10A>G
ENST00000394321.9:n.112-10A>G
ENST00000596390.1:n.148-10A>G
ENST00000601003.1:c.32-10A>G ENSP00000469074.1:n.32-10A>G
NM_020533.2:c.32-10A>G NP_065394.1:n.32-10A>G
XR_936293.1:n.4T>C
XR_936294.1:n.4T>C
XR_936295.1:n.4T>C
XR_936293.2:n.30T>C
XR_936294.2:n.30T>C
NM_020533.3:c.32-10A>G MANE Select NP_065394.1:n.32-10A>G
Search 100 bp 5'
Search 100 bp 3'