Canonical Allele Identifier: CA606704130
Gene: LUM HGNC NCBI

Linked Data

dbSNP Id: rs1337333267
gnomAD v2: 12-91505434-G-A
gnomAD v3: 12-91111657-G-A
gnomAD v4: 12-91111657-G-A
MyVariant Identifiers: chr12:g.91505434G>A (hg19) chr12:g.91111657G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91111657G>A , CM000674.2:g.91111657G>A GRCh38
NC_000012.11:g.91505434G>A , CM000674.1:g.91505434G>A GRCh37
NC_000012.10:g.90029565G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.4:c.-281C>T ENSP00000266718.4:n.-281C>T
NM_002345.3:c.-281C>T NP_002336.1:n.-281C>T
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