Canonical Allele Identifier: CA9138922
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs772945180
ExAC: 19:7593096 C / A
gnomAD v2: 19-7593096-C-A
gnomAD v4: 19-7528210-C-A
MyVariant Identifiers: chr19:g.7593096C>A (hg19) chr19:g.7528210C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528210C>A , CM000681.2:g.7528210C>A GRCh38
NC_000019.9:g.7593096C>A , CM000681.1:g.7593096C>A GRCh37
NC_000019.8:g.7499096C>A NCBI36
NG_015806.1:g.10601C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.830C>A MANE Select ENSP00000264079.5:p.Thr277Asn
ENST00000264079.10:c.830C>A ENSP00000264079.5:p.Thr277Asn
ENST00000394321.9:n.1145C>A
NM_020533.2:c.830C>A NP_065394.1:p.Thr277Asn
NM_020533.3:c.830C>A MANE Select NP_065394.1:p.Thr277Asn
Search 100 bp 5'
Search 100 bp 3'