Canonical Allele Identifier: CA241230547
Gene: LUM HGNC NCBI

Linked Data

dbSNP Id: rs963818745
gnomAD v2: 12-91501272-T-C
gnomAD v3: 12-91107495-T-C
gnomAD v4: 12-91107495-T-C
MyVariant Identifiers: chr12:g.91501272T>C (hg19) chr12:g.91107495T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91107495T>C , CM000674.2:g.91107495T>C GRCh38
NC_000012.11:g.91501272T>C , CM000674.1:g.91501272T>C GRCh37
NC_000012.10:g.90025403T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.862+623A>G MANE Select ENSP00000266718.4:n.862+623A>G
ENST00000266718.4:c.862+623A>G ENSP00000266718.4:n.862+623A>G
ENST00000546642.1:n.612+623A>G
ENST00000548071.1:n.255+623A>G
NM_002345.3:c.862+623A>G NP_002336.1:n.862+623A>G
NM_002345.4:c.862+623A>G MANE Select NP_002336.1:n.862+623A>G
Search 100 bp 5'
Search 100 bp 3'