Canonical Allele Identifier: CA304854903
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs543783773
gnomAD v2: 19-7594849-G-A
gnomAD v3: 19-7529963-G-A
gnomAD v4: 19-7529963-G-A
MyVariant Identifiers: chr19:g.7594849G>A (hg19) chr19:g.7529963G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529963G>A , CM000681.2:g.7529963G>A GRCh38
NC_000019.9:g.7594849G>A , CM000681.1:g.7594849G>A GRCh37
NC_000019.8:g.7500849G>A NCBI36
NG_013374.1:g.812G>A
NG_015806.1:g.12354G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1359+251G>A MANE Select ENSP00000264079.5:n.1359+251G>A
ENST00000264079.10:c.1359+251G>A ENSP00000264079.5:n.1359+251G>A
ENST00000394321.9:n.1674+251G>A
ENST00000594692.1:n.355+251G>A
ENST00000595860.5:n.542+251G>A
ENST00000599334.1:c.236+251G>A
NM_020533.2:c.1359+251G>A NP_065394.1:n.1359+251G>A
NM_020533.3:c.1359+251G>A MANE Select NP_065394.1:n.1359+251G>A
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