Canonical Allele Identifier: CA9139281
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs556357852
ExAC: 19:7598795 A / G
gnomAD v2: 19-7598795-A-G
gnomAD v3: 19-7533909-A-G
gnomAD v4: 19-7533909-A-G
MyVariant Identifiers: chr19:g.7598795A>G (hg19) chr19:g.7533909A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533909A>G , CM000681.2:g.7533909A>G GRCh38
NC_000019.9:g.7598795A>G , CM000681.1:g.7598795A>G GRCh37
NC_000019.8:g.7504795A>G NCBI36
NG_013374.1:g.4758A>G
NG_015806.1:g.16300A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*114A>G MANE Select ENSP00000264079.5:n.*114A>G
ENST00000264079.10:c.*114A>G ENSP00000264079.5:n.*114A>G
ENST00000394321.9:n.2172A>G
ENST00000599334.1:c.585A>G
ENST00000601870.1:c.169+41A>G
ENST00000602227.1:n.411A>G
NM_020533.2:c.*114A>G NP_065394.1:n.*114A>G
NM_020533.3:c.*114A>G MANE Select NP_065394.1:n.*114A>G
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