Canonical Allele Identifier: CA241230104
Gene: LUM HGNC NCBI

Linked Data

dbSNP Id: rs550388218
gnomAD v2: 12-91500872-G-T
gnomAD v3: 12-91107095-G-T
gnomAD v4: 12-91107095-G-T
MyVariant Identifiers: chr12:g.91500872G>T (hg19) chr12:g.91107095G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107095G>T , CM000674.2:g.91107095G>T GRCh38
NC_000012.11:g.91500872G>T , CM000674.1:g.91500872G>T GRCh37
NC_000012.10:g.90025003G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.862+1023C>A MANE Select ENSP00000266718.4:n.862+1023C>A
ENST00000266718.4:c.862+1023C>A ENSP00000266718.4:n.862+1023C>A
ENST00000546642.1:n.612+1023C>A
ENST00000548071.1:n.255+1023C>A
NM_002345.3:c.862+1023C>A NP_002336.1:n.862+1023C>A
NM_002345.4:c.862+1023C>A MANE Select NP_002336.1:n.862+1023C>A
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