Canonical Allele Identifier: CA385727965
Gene: LYZ HGNC NCBI

Linked Data

dbSNP Id: rs1283646982
gnomAD v2: 12-69747041-A-G
gnomAD v4: 12-69353261-A-G
MyVariant Identifiers: chr12:g.69747041A>G (hg19) chr12:g.69353261A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.69353261A>G , CM000674.2:g.69353261A>G GRCh38
NC_000012.11:g.69747041A>G , CM000674.1:g.69747041A>G GRCh37
NC_000012.10:g.68033308A>G NCBI36
NG_008195.1:g.9908A>G , LRG_768:g.9908A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261267.7:c.*42A>G MANE Select ENSP00000261267.2:n.*42A>G
ENST00000261267.6:c.*42A>G ENSP00000261267.2:n.*42A>G
ENST00000549690.1:c.410A>G ENSP00000449898.1:p.His137Arg
NM_000239.2:c.*42A>G , LRG_768t1:c.*42A>G NP_000230.1:n.*42A>G
NM_000239.3:c.*42A>G MANE Select NP_000230.1:n.*42A>G
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