Canonical Allele Identifier: CA304854936
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs369876594
gnomAD v3: 19-7530043-C-T
gnomAD v4: 19-7530043-C-T
MyVariant Identifiers: chr19:g.7594929C>T (hg19) chr19:g.7530043C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530043C>T , CM000681.2:g.7530043C>T GRCh38
NC_000019.9:g.7594929C>T , CM000681.1:g.7594929C>T GRCh37
NC_000019.8:g.7500929C>T NCBI36
NG_013374.1:g.892C>T
NG_015806.1:g.12434C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1360-243C>T MANE Select ENSP00000264079.5:n.1360-243C>T
ENST00000264079.10:c.1360-243C>T ENSP00000264079.5:n.1360-243C>T
ENST00000394321.9:n.1675-243C>T
ENST00000594692.1:n.356-243C>T
ENST00000595860.5:n.543-243C>T
ENST00000599334.1:c.236+331C>T
NM_020533.2:c.1360-243C>T NP_065394.1:n.1360-243C>T
NM_020533.3:c.1360-243C>T MANE Select NP_065394.1:n.1360-243C>T
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