Canonical Allele Identifier: CA403091686
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1165986630
gnomAD v2: 19-7598500-G-A
gnomAD v4: 19-7533614-G-A
MyVariant Identifiers: chr19:g.7598500G>A (hg19) chr19:g.7533614G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533614G>A , CM000681.2:g.7533614G>A GRCh38
NC_000019.9:g.7598500G>A , CM000681.1:g.7598500G>A GRCh37
NC_000019.8:g.7504500G>A NCBI36
NG_013374.1:g.4463G>A
NG_015806.1:g.16005G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1667G>A MANE Select ENSP00000264079.5:p.Gly556Glu
ENST00000264079.10:c.1667G>A ENSP00000264079.5:p.Gly556Glu
ENST00000394321.9:n.1982G>A
ENST00000599334.1:c.395G>A
ENST00000601870.1:c.20G>A
ENST00000602227.1:n.221G>A
NM_020533.2:c.1667G>A NP_065394.1:p.Gly556Glu
NM_020533.3:c.1667G>A MANE Select NP_065394.1:p.Gly556Glu
Search 100 bp 5'
Search 100 bp 3'