Canonical Allele Identifier: CA241233604
Gene: LUM HGNC NCBI

Linked Data

dbSNP Id: rs963188964
gnomAD v3: 12-91111347-G-C
gnomAD v4: 12-91111347-G-C
MyVariant Identifiers: chr12:g.91505124G>C (hg19) chr12:g.91111347G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91111347G>C , CM000674.2:g.91111347G>C GRCh38
NC_000012.11:g.91505124G>C , CM000674.1:g.91505124G>C GRCh37
NC_000012.10:g.90029255G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266718.5:c.-22+51C>G MANE Select ENSP00000266718.4:n.-22+51C>G
ENST00000266718.4:c.-22+51C>G ENSP00000266718.4:n.-22+51C>G
ENST00000546642.1:n.42+51C>G
ENST00000548071.1:n.89+51C>G
NM_002345.3:c.-22+51C>G NP_002336.1:n.-22+51C>G
NM_002345.4:c.-22+51C>G MANE Select NP_002336.1:n.-22+51C>G
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