Canonical Allele Identifier: CA304854829
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs985057165
gnomAD v2: 19-7594734-C-T
gnomAD v3: 19-7529848-C-T
gnomAD v4: 19-7529848-C-T
MyVariant Identifiers: chr19:g.7594734C>T (hg19) chr19:g.7529848C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529848C>T , CM000681.2:g.7529848C>T GRCh38
NC_000019.9:g.7594734C>T , CM000681.1:g.7594734C>T GRCh37
NC_000019.8:g.7500734C>T NCBI36
NG_013374.1:g.697C>T
NG_015806.1:g.12239C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1359+136C>T MANE Select ENSP00000264079.5:n.1359+136C>T
ENST00000264079.10:c.1359+136C>T ENSP00000264079.5:n.1359+136C>T
ENST00000394321.9:n.1674+136C>T
ENST00000594692.1:n.355+136C>T
ENST00000595860.5:n.542+136C>T
ENST00000599334.1:c.236+136C>T
NM_020533.2:c.1359+136C>T NP_065394.1:n.1359+136C>T
NM_020533.3:c.1359+136C>T MANE Select NP_065394.1:n.1359+136C>T
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