Canonical Allele Identifier: CA10643271
Gene: LYZ HGNC NCBI

Linked Data

ClinVar Variation Id: 310343
ClinVar RCV Id: RCV000291243
dbSNP Id: rs183441118
gnomAD v2: 12-69747414-G-A
gnomAD v3: 12-69353634-G-A
gnomAD v4: 12-69353634-G-A
MyVariant Identifiers: chr12:g.69747414G>A (hg19) chr12:g.69353634G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.69353634G>A , CM000674.2:g.69353634G>A GRCh38
NC_000012.11:g.69747414G>A , CM000674.1:g.69747414G>A GRCh37
NC_000012.10:g.68033681G>A NCBI36
NG_008195.1:g.10281G>A , LRG_768:g.10281G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261267.7:c.*415G>A MANE Select ENSP00000261267.2:n.*415G>A
ENST00000261267.6:c.*415G>A ENSP00000261267.2:n.*415G>A
NM_000239.2:c.*415G>A , LRG_768t1:c.*415G>A NP_000230.1:n.*415G>A
NM_000239.3:c.*415G>A MANE Select NP_000230.1:n.*415G>A
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