Canonical Allele Identifier: CA606704110
Gene: LUM HGNC NCBI

Linked Data

dbSNP Id: rs1443320132
gnomAD v2: 12-91505239-A-G
gnomAD v3: 12-91111462-A-G
gnomAD v4: 12-91111462-A-G
MyVariant Identifiers: chr12:g.91505239A>G (hg19) chr12:g.91111462A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91111462A>G , CM000674.2:g.91111462A>G GRCh38
NC_000012.11:g.91505239A>G , CM000674.1:g.91505239A>G GRCh37
NC_000012.10:g.90029370A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000266718.5:c.-86T>C MANE Select ENSP00000266718.4:n.-86T>C
ENST00000266718.4:c.-86T>C ENSP00000266718.4:n.-86T>C
ENST00000548071.1:n.25T>C
NM_002345.3:c.-86T>C NP_002336.1:n.-86T>C
NM_002345.4:c.-86T>C MANE Select NP_002336.1:n.-86T>C
Search 100 bp 5'
Search 100 bp 3'