Canonical Allele Identifier: CA505231551
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1210873453
gnomAD v3: 19-7528741-G-A
gnomAD v4: 19-7528741-G-A
MyVariant Identifiers: chr19:g.7593627G>A (hg19) chr19:g.7528741G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528741G>A , CM000681.2:g.7528741G>A GRCh38
NC_000019.9:g.7593627G>A , CM000681.1:g.7593627G>A GRCh37
NC_000019.8:g.7499627G>A NCBI36
NG_015806.1:g.11132G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.984+38G>A MANE Select ENSP00000264079.5:n.984+38G>A
ENST00000264079.10:c.984+38G>A ENSP00000264079.5:n.984+38G>A
ENST00000394321.9:n.1299+38G>A
ENST00000595860.5:n.88G>A
NM_020533.2:c.984+38G>A NP_065394.1:n.984+38G>A
NM_020533.3:c.984+38G>A MANE Select NP_065394.1:n.984+38G>A
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