Canonical Allele Identifier: CA241230143
Gene: LUM HGNC NCBI

Linked Data

dbSNP Id: rs138211809
gnomAD v2: 12-91500928-A-G
gnomAD v3: 12-91107151-A-G
gnomAD v4: 12-91107151-A-G
MyVariant Identifiers: chr12:g.91500928A>G (hg19) chr12:g.91500928_91500932delinsGAAAG (hg19) chr12:g.91107151A>G (hg38) chr12:g.91107151_91107155delinsGAAAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107151A>G , CM000674.2:g.91107151A>G GRCh38
NC_000012.11:g.91500928A>G , CM000674.1:g.91500928A>G GRCh37
NC_000012.10:g.90025059A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.862+967T>C MANE Select ENSP00000266718.4:n.862+967T>C
ENST00000266718.4:c.862+967T>C ENSP00000266718.4:n.862+967T>C
ENST00000546642.1:n.612+967T>C
ENST00000548071.1:n.255+967T>C
NM_002345.3:c.862+967T>C NP_002336.1:n.862+967T>C
NM_002345.4:c.862+967T>C MANE Select NP_002336.1:n.862+967T>C
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