Canonical Allele Identifier: CA123906
Gene: LYZ HGNC NCBI

Linked Data

ClinVar Variation Id: 14376
ClinVar RCV Id: RCV000015452 RCV001509432
dbSNP Id: rs387906536
gnomAD v4: 12-69350215-T-C
MyVariant Identifiers: chr12:g.69743995T>C (hg19) chr12:g.69350215T>C (hg38)
PubMed: PMID:11849445
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.69350215T>C , CM000674.2:g.69350215T>C GRCh38
NC_000012.11:g.69743995T>C , CM000674.1:g.69743995T>C GRCh37
NC_000012.10:g.68030262T>C NCBI36
NG_008195.1:g.6862T>C , LRG_768:g.6862T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261267.7:c.244T>C MANE Select ENSP00000261267.2:p.Trp82Arg
ENST00000261267.6:c.244T>C ENSP00000261267.2:p.Trp82Arg
ENST00000548839.1:c.244T>C ENSP00000449969.1:p.Trp82Arg
ENST00000549690.1:c.244T>C ENSP00000449898.1:p.Trp82Arg
NM_000239.2:c.244T>C , LRG_768t1:c.244T>C NP_000230.1:p.Trp82Arg
NM_000239.3:c.244T>C MANE Select NP_000230.1:p.Trp82Arg
Search 100 bp 5'
Search 100 bp 3'