Canonical Allele Identifier: CA2620150154

Gene: LUM

Linked Data

• gnomAD v4: 12-91111393-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91111393C>G , CM000674.2:g.91111393C>G	GRCh38
NC_000012.11:g.91505170C>G , CM000674.1:g.91505170C>G	GRCh37
NC_000012.10:g.90029301C>G	NCBI36

Transcript Alleles

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