Canonical Allele Identifier: CA606704111
Gene: LUM HGNC NCBI

Linked Data

dbSNP Id: rs1293743135
gnomAD v2: 12-91505242-A-G
gnomAD v3: 12-91111465-A-G
gnomAD v4: 12-91111465-A-G
MyVariant Identifiers: chr12:g.91505242A>G (hg19) chr12:g.91111465A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91111465A>G , CM000674.2:g.91111465A>G GRCh38
NC_000012.11:g.91505242A>G , CM000674.1:g.91505242A>G GRCh37
NC_000012.10:g.90029373A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000266718.5:c.-89T>C MANE Select ENSP00000266718.4:n.-89T>C
ENST00000266718.4:c.-89T>C ENSP00000266718.4:n.-89T>C
ENST00000548071.1:n.22T>C
NM_002345.3:c.-89T>C NP_002336.1:n.-89T>C
NM_002345.4:c.-89T>C MANE Select NP_002336.1:n.-89T>C
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