Canonical Allele Identifier: CA6679745
Gene: LYZ HGNC NCBI

Linked Data

ClinVar Variation Id: 310331
ClinVar RCV Id: RCV000277779 RCV002056331
dbSNP Id: rs1800973
ExAC: 12:69744014 C / A
gnomAD v2: 12-69744014-C-A
gnomAD v3: 12-69350234-C-A
gnomAD v4: 12-69350234-C-A
MyVariant Identifiers: chr12:g.69744014C>A (hg19) chr12:g.69350234C>A (hg38)
PubMed: PMID:12709420 PMID:16329101
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.69350234C>A , CM000674.2:g.69350234C>A GRCh38
NC_000012.11:g.69744014C>A , CM000674.1:g.69744014C>A GRCh37
NC_000012.10:g.68030281C>A NCBI36
NG_008195.1:g.6881C>A , LRG_768:g.6881C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261267.7:c.263C>A MANE Select ENSP00000261267.2:p.Thr88Asn
ENST00000261267.6:c.263C>A ENSP00000261267.2:p.Thr88Asn
ENST00000548839.1:c.263C>A ENSP00000449969.1:p.Thr88Asn
ENST00000549690.1:c.263C>A ENSP00000449898.1:p.Thr88Asn
NM_000239.2:c.263C>A , LRG_768t1:c.263C>A NP_000230.1:p.Thr88Asn
NM_000239.3:c.263C>A MANE Select NP_000230.1:p.Thr88Asn
Search 100 bp 5'
Search 100 bp 3'