Canonical Allele Identifier: CA9139131
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs749135599
ExAC: 19:7595126 C / A
gnomAD v2: 19-7595126-C-A
gnomAD v3: 19-7530240-C-A
gnomAD v4: 19-7530240-C-A
MyVariant Identifiers: chr19:g.7595126C>A (hg19) chr19:g.7530240C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530240C>A , CM000681.2:g.7530240C>A GRCh38
NC_000019.9:g.7595126C>A , CM000681.1:g.7595126C>A GRCh37
NC_000019.8:g.7501126C>A NCBI36
NG_013374.1:g.1089C>A
NG_015806.1:g.12631C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1360-46C>A MANE Select ENSP00000264079.5:n.1360-46C>A
ENST00000264079.10:c.1360-46C>A ENSP00000264079.5:n.1360-46C>A
ENST00000394321.9:n.1675-46C>A
ENST00000594692.1:n.356-46C>A
ENST00000595860.5:n.543-46C>A
ENST00000599334.1:c.237-195C>A
NM_020533.2:c.1360-46C>A NP_065394.1:n.1360-46C>A
NM_020533.3:c.1360-46C>A MANE Select NP_065394.1:n.1360-46C>A
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