Canonical Allele Identifier: CA693367546
Gene: LUM HGNC NCBI

Linked Data

dbSNP Id: rs1421737040
gnomAD v3: 12-91111442-A-C
gnomAD v4: 12-91111442-A-C
MyVariant Identifiers: chr12:g.91505219A>C (hg19) chr12:g.91111442A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91111442A>C , CM000674.2:g.91111442A>C GRCh38
NC_000012.11:g.91505219A>C , CM000674.1:g.91505219A>C GRCh37
NC_000012.10:g.90029350A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000266718.5:c.-66T>G MANE Select ENSP00000266718.4:n.-66T>G
ENST00000266718.4:c.-66T>G ENSP00000266718.4:n.-66T>G
ENST00000548071.1:n.45T>G
NM_002345.3:c.-66T>G NP_002336.1:n.-66T>G
NM_002345.4:c.-66T>G MANE Select NP_002336.1:n.-66T>G
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