Canonical Allele Identifier: CA241230540
Gene: LUM HGNC NCBI

Linked Data

dbSNP Id: rs1008054153
gnomAD v2: 12-91501246-A-G
gnomAD v3: 12-91107469-A-G
gnomAD v4: 12-91107469-A-G
MyVariant Identifiers: chr12:g.91501246A>G (hg19) chr12:g.91107469A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107469A>G , CM000674.2:g.91107469A>G GRCh38
NC_000012.11:g.91501246A>G , CM000674.1:g.91501246A>G GRCh37
NC_000012.10:g.90025377A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000266718.5:c.862+649T>C MANE Select ENSP00000266718.4:n.862+649T>C
ENST00000266718.4:c.862+649T>C ENSP00000266718.4:n.862+649T>C
ENST00000546642.1:n.612+649T>C
ENST00000548071.1:n.255+649T>C
NM_002345.3:c.862+649T>C NP_002336.1:n.862+649T>C
NM_002345.4:c.862+649T>C MANE Select NP_002336.1:n.862+649T>C
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