Canonical Allele Identifier: CA2796947771
Gene: LUM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91111390G>T , CM000674.2:g.91111390G>T GRCh38
NC_000012.11:g.91505167G>T , CM000674.1:g.91505167G>T GRCh37
NC_000012.10:g.90029298G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.-22+8C>A MANE Select ENSP00000266718.4:n.-22+8C>A
ENST00000266718.4:c.-22+8C>A ENSP00000266718.4:n.-22+8C>A
ENST00000546642.1:n.42+8C>A
ENST00000548071.1:n.89+8C>A
NM_002345.3:c.-22+8C>A NP_002336.1:n.-22+8C>A
NM_002345.4:c.-22+8C>A MANE Select NP_002336.1:n.-22+8C>A