Canonical Allele Identifier: CA2587950269
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7533406-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533406G>C , CM000681.2:g.7533406G>C GRCh38
NC_000019.9:g.7598292G>C , CM000681.1:g.7598292G>C GRCh37
NC_000019.8:g.7504292G>C NCBI36
NG_013374.1:g.4255G>C
NG_015806.1:g.15797G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1576-117G>C MANE Select ENSP00000264079.5:n.1576-117G>C
ENST00000264079.10:c.1576-117G>C ENSP00000264079.5:n.1576-117G>C
ENST00000394321.9:n.1891-117G>C
ENST00000599334.1:c.304-117G>C
ENST00000602227.1:n.13G>C
NM_020533.2:c.1576-117G>C NP_065394.1:n.1576-117G>C
NM_020533.3:c.1576-117G>C MANE Select NP_065394.1:n.1576-117G>C
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