Canonical Allele Identifier: CA304854783
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs981203128
gnomAD v2: 19-7594665-G-C
gnomAD v3: 19-7529779-G-C
gnomAD v4: 19-7529779-G-C
MyVariant Identifiers: chr19:g.7594665G>C (hg19) chr19:g.7529779G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529779G>C , CM000681.2:g.7529779G>C GRCh38
NC_000019.9:g.7594665G>C , CM000681.1:g.7594665G>C GRCh37
NC_000019.8:g.7500665G>C NCBI36
NG_013374.1:g.628G>C
NG_015806.1:g.12170G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1359+67G>C MANE Select ENSP00000264079.5:n.1359+67G>C
ENST00000264079.10:c.1359+67G>C ENSP00000264079.5:n.1359+67G>C
ENST00000394321.9:n.1674+67G>C
ENST00000594692.1:n.355+67G>C
ENST00000595860.5:n.542+67G>C
ENST00000599334.1:c.236+67G>C
NM_020533.2:c.1359+67G>C NP_065394.1:n.1359+67G>C
NM_020533.3:c.1359+67G>C MANE Select NP_065394.1:n.1359+67G>C
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