Canonical Allele Identifier: CA10643274
Gene: LYZ HGNC NCBI

Linked Data

ClinVar Variation Id: 310351
ClinVar RCV Id: RCV000263235
dbSNP Id: rs8612
gnomAD v2: 12-69747654-G-T
gnomAD v3: 12-69353874-G-T
gnomAD v4: 12-69353874-G-T
MyVariant Identifiers: chr12:g.69747654G>T (hg19) chr12:g.69353874G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.69353874G>T , CM000674.2:g.69353874G>T GRCh38
NC_000012.11:g.69747654G>T , CM000674.1:g.69747654G>T GRCh37
NC_000012.10:g.68033921G>T NCBI36
NG_008195.1:g.10521G>T , LRG_768:g.10521G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261267.7:c.*655G>T MANE Select ENSP00000261267.2:n.*655G>T
ENST00000261267.6:c.*655G>T ENSP00000261267.2:n.*655G>T
NM_000239.2:c.*655G>T , LRG_768t1:c.*655G>T NP_000230.1:n.*655G>T
NM_000239.3:c.*655G>T MANE Select NP_000230.1:n.*655G>T
Search 100 bp 5'
Search 100 bp 3'