Canonical Allele Identifier: CA241233889

Gene: LUM

Linked Data

• dbSNP Id: rs987173748
• gnomAD v4: 12-91111541-A-G
• MyVariant Identifiers: chr12:g.91505318A>G (hg19) ; chr12:g.91111541A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.91111541A>G , CM000674.2:g.91111541A>G	GRCh38
NC_000012.11:g.91505318A>G , CM000674.1:g.91505318A>G	GRCh37
NC_000012.10:g.90029449A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266718.4:c.-165T>C	ENSP00000266718.4:n.-165T>C
NM_002345.3:c.-165T>C	NP_002336.1:n.-165T>C