Canonical Allele Identifier: CA241230051
Gene: LUM HGNC NCBI

Linked Data

dbSNP Id: rs898173666
gnomAD v3: 12-91107043-G-A
gnomAD v4: 12-91107043-G-A
MyVariant Identifiers: chr12:g.91500820G>A (hg19) chr12:g.91107043G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107043G>A , CM000674.2:g.91107043G>A GRCh38
NC_000012.11:g.91500820G>A , CM000674.1:g.91500820G>A GRCh37
NC_000012.10:g.90024951G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.862+1075C>T MANE Select ENSP00000266718.4:n.862+1075C>T
ENST00000266718.4:c.862+1075C>T ENSP00000266718.4:n.862+1075C>T
ENST00000546642.1:n.612+1075C>T
ENST00000548071.1:n.255+1075C>T
NM_002345.3:c.862+1075C>T NP_002336.1:n.862+1075C>T
NM_002345.4:c.862+1075C>T MANE Select NP_002336.1:n.862+1075C>T
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