Canonical Allele Identifier: CA9139257
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs781647246
ExAC: 19:7598697 G / A
gnomAD v2: 19-7598697-G-A
gnomAD v4: 19-7533811-G-A
MyVariant Identifiers: chr19:g.7598697G>A (hg19) chr19:g.7533811G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533811G>A , CM000681.2:g.7533811G>A GRCh38
NC_000019.9:g.7598697G>A , CM000681.1:g.7598697G>A GRCh37
NC_000019.8:g.7504697G>A NCBI36
NG_013374.1:g.4660G>A
NG_015806.1:g.16202G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*16G>A MANE Select ENSP00000264079.5:n.*16G>A
ENST00000264079.10:c.*16G>A ENSP00000264079.5:n.*16G>A
ENST00000394321.9:n.2074G>A
ENST00000599334.1:c.487G>A
ENST00000601870.1:c.112G>A
ENST00000602227.1:n.313G>A
NM_020533.2:c.*16G>A NP_065394.1:n.*16G>A
NM_020533.3:c.*16G>A MANE Select NP_065394.1:n.*16G>A
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