Canonical Allele Identifier: CA241233646
Gene: LUM HGNC NCBI

Linked Data

dbSNP Id: rs192474317
gnomAD v3: 12-91111421-G-A
gnomAD v4: 12-91111421-G-A
MyVariant Identifiers: chr12:g.91505198G>A (hg19) chr12:g.91111421G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91111421G>A , CM000674.2:g.91111421G>A GRCh38
NC_000012.11:g.91505198G>A , CM000674.1:g.91505198G>A GRCh37
NC_000012.10:g.90029329G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.-45C>T MANE Select ENSP00000266718.4:n.-45C>T
ENST00000266718.4:c.-45C>T ENSP00000266718.4:n.-45C>T
ENST00000546642.1:n.19C>T
ENST00000548071.1:n.66C>T
NM_002345.3:c.-45C>T NP_002336.1:n.-45C>T
NM_002345.4:c.-45C>T MANE Select NP_002336.1:n.-45C>T
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