Canonical Allele Identifier: CA9139122
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2885984
ClinVar RCV Id: RCV003615138
dbSNP Id: rs758791255
ExAC: 19:7594608 A / G
gnomAD v2: 19-7594608-A-G
gnomAD v4: 19-7529722-A-G
MyVariant Identifiers: chr19:g.7594608A>G (hg19) chr19:g.7529722A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529722A>G , CM000681.2:g.7529722A>G GRCh38
NC_000019.9:g.7594608A>G , CM000681.1:g.7594608A>G GRCh37
NC_000019.8:g.7500608A>G NCBI36
NG_013374.1:g.571A>G
NG_015806.1:g.12113A>G

Transcript Alleles

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