Canonical Allele Identifier: CA347337
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 208023
ClinVar RCV Id: RCV000192302
dbSNP Id: rs797044818
gnomAD v3: 19-7530332-A-G
gnomAD v4: 19-7530332-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530332A>G , CM000681.2:g.7530332A>G GRCh38
NC_000019.9:g.7595218A>G , CM000681.1:g.7595218A>G GRCh37
NC_000019.8:g.7501218A>G NCBI36
NG_013374.1:g.1181A>G
NG_015806.1:g.12723A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1406A>G MANE Select ENSP00000264079.5:p.Asn469Ser
ENST00000264079.10:c.1406A>G ENSP00000264079.5:p.Asn469Ser
ENST00000394321.9:n.1721A>G
ENST00000594692.1:n.402A>G
ENST00000595860.5:n.589A>G
ENST00000599334.1:c.237-103A>G
NM_020533.2:c.1406A>G NP_065394.1:p.Asn469Ser
NM_020533.3:c.1406A>G MANE Select NP_065394.1:p.Asn469Ser