Canonical Allele Identifier: CA2587949430
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7530158-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530158G>A , CM000681.2:g.7530158G>A GRCh38
NC_000019.9:g.7595044G>A , CM000681.1:g.7595044G>A GRCh37
NC_000019.8:g.7501044G>A NCBI36
NG_013374.1:g.1007G>A
NG_015806.1:g.12549G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1360-128G>A MANE Select ENSP00000264079.5:n.1360-128G>A
ENST00000264079.10:c.1360-128G>A ENSP00000264079.5:n.1360-128G>A
ENST00000394321.9:n.1675-128G>A
ENST00000594692.1:n.356-128G>A
ENST00000595860.5:n.543-128G>A
ENST00000599334.1:c.237-277G>A
NM_020533.2:c.1360-128G>A NP_065394.1:n.1360-128G>A
NM_020533.3:c.1360-128G>A MANE Select NP_065394.1:n.1360-128G>A
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