Canonical Allele Identifier: CA241234030

Gene: LUM

Linked Data

• dbSNP Id: rs1017071394
• gnomAD v3: 12-91111673-A-G
• gnomAD v4: 12-91111673-A-G
• MyVariant Identifiers: chr12:g.91505450A>G (hg19) ; chr12:g.91111673A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91111673A>G , CM000674.2:g.91111673A>G	GRCh38
NC_000012.11:g.91505450A>G , CM000674.1:g.91505450A>G	GRCh37
NC_000012.10:g.90029581A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266718.4:c.-297T>C	ENSP00000266718.4:n.-297T>C
NM_002345.3:c.-297T>C	NP_002336.1:n.-297T>C