Canonical Allele Identifier: CA950428803

Gene: LUM

Linked Data

• dbSNP Id: rs1880052303
• gnomAD v3: 12-91107096-A-G
• gnomAD v4: 12-91107096-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91107096A>G , CM000674.2:g.91107096A>G	GRCh38
NC_000012.11:g.91500873A>G , CM000674.1:g.91500873A>G	GRCh37
NC_000012.10:g.90025004A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266718.5:c.862+1022T>C MANE Select	ENSP00000266718.4:n.862+1022T>C
ENST00000266718.4:c.862+1022T>C	ENSP00000266718.4:n.862+1022T>C
ENST00000546642.1:n.612+1022T>C
ENST00000548071.1:n.255+1022T>C
NM_002345.3:c.862+1022T>C	NP_002336.1:n.862+1022T>C
NM_002345.4:c.862+1022T>C MANE Select	NP_002336.1:n.862+1022T>C