Canonical Allele Identifier: CA480442815
Gene: LYZ HGNC NCBI

Linked Data

dbSNP Id: rs1432149379
gnomAD v4: 12-69353493-C-A
MyVariant Identifiers: chr12:g.69747273C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.69353493C>A , CM000674.2:g.69353493C>A GRCh38
NC_000012.11:g.69747273C>A , CM000674.1:g.69747273C>A GRCh37
NC_000012.10:g.68033540C>A NCBI36
NG_008195.1:g.10140C>A , LRG_768:g.10140C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261267.7:c.*274C>A MANE Select ENSP00000261267.2:n.*274C>A
ENST00000261267.6:c.*274C>A ENSP00000261267.2:n.*274C>A
ENST00000549690.1:c.*228C>A ENSP00000449898.1:n.*228C>A
NM_000239.2:c.*274C>A , LRG_768t1:c.*274C>A NP_000230.1:n.*274C>A
NM_000239.3:c.*274C>A MANE Select NP_000230.1:n.*274C>A
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