Canonical Allele Identifier: CA10642392
Gene: LYZ HGNC NCBI

Linked Data

ClinVar Variation Id: 310346
ClinVar RCV Id: RCV000311347
dbSNP Id: rs886049807
gnomAD v2: 12-69747441-T-G
gnomAD v3: 12-69353661-T-G
gnomAD v4: 12-69353661-T-G
MyVariant Identifiers: chr12:g.69747441T>G (hg19) chr12:g.69353661T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.69353661T>G , CM000674.2:g.69353661T>G GRCh38
NC_000012.11:g.69747441T>G , CM000674.1:g.69747441T>G GRCh37
NC_000012.10:g.68033708T>G NCBI36
NG_008195.1:g.10308T>G , LRG_768:g.10308T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261267.7:c.*442T>G MANE Select ENSP00000261267.2:n.*442T>G
ENST00000261267.6:c.*442T>G ENSP00000261267.2:n.*442T>G
NM_000239.2:c.*442T>G , LRG_768t1:c.*442T>G NP_000230.1:n.*442T>G
NM_000239.3:c.*442T>G MANE Select NP_000230.1:n.*442T>G
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