Canonical Allele Identifier: CA606704115

Gene: LUM

Linked Data

• dbSNP Id: rs1274142040
• gnomAD v2: 12-91505283-T-G
• gnomAD v3: 12-91111506-T-G
• gnomAD v4: 12-91111506-T-G
• MyVariant Identifiers: chr12:g.91505283T>G (hg19) ; chr12:g.91111506T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91111506T>G , CM000674.2:g.91111506T>G	GRCh38
NC_000012.11:g.91505283T>G , CM000674.1:g.91505283T>G	GRCh37
NC_000012.10:g.90029414T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266718.4:c.-130A>C	ENSP00000266718.4:n.-130A>C
NM_002345.3:c.-130A>C	NP_002336.1:n.-130A>C