Canonical Allele Identifier: CA9139252
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs369191172
gnomAD v2: 19-7598677-A-G
gnomAD v4: 19-7533791-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533791A>G , CM000681.2:g.7533791A>G GRCh38
NC_000019.9:g.7598677A>G , CM000681.1:g.7598677A>G GRCh37
NC_000019.8:g.7504677A>G NCBI36
NG_013374.1:g.4640A>G
NG_015806.1:g.16182A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1739A>G MANE Select ENSP00000264079.5:p.Asn580Ser
ENST00000264079.10:c.1739A>G ENSP00000264079.5:p.Asn580Ser
ENST00000394321.9:n.2054A>G
ENST00000599334.1:c.467A>G
ENST00000601870.1:c.92A>G
ENST00000602227.1:n.293A>G
NM_020533.2:c.1739A>G NP_065394.1:p.Asn580Ser
NM_020533.3:c.1739A>G MANE Select NP_065394.1:p.Asn580Ser