Canonical Allele Identifier: CA606703691
Gene: LUM HGNC NCBI

Linked Data

dbSNP Id: rs1224691090
gnomAD v2: 12-91501050-A-G
gnomAD v3: 12-91107273-A-G
gnomAD v4: 12-91107273-A-G
MyVariant Identifiers: chr12:g.91501050A>G (hg19) chr12:g.91501050_91501064delinsGAGAAAGAAAGAAAG (hg19) chr12:g.91107273A>G (hg38) chr12:g.91107273_91107287delinsGAGAAAGAAAGAAAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107273A>G , CM000674.2:g.91107273A>G GRCh38
NC_000012.11:g.91501050A>G , CM000674.1:g.91501050A>G GRCh37
NC_000012.10:g.90025181A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.862+845T>C MANE Select ENSP00000266718.4:n.862+845T>C
ENST00000266718.4:c.862+845T>C ENSP00000266718.4:n.862+845T>C
ENST00000546642.1:n.612+845T>C
ENST00000548071.1:n.255+845T>C
NM_002345.3:c.862+845T>C NP_002336.1:n.862+845T>C
NM_002345.4:c.862+845T>C MANE Select NP_002336.1:n.862+845T>C
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