Canonical Allele Identifier: CA385727954
Gene: LYZ HGNC NCBI

Linked Data

gnomAD v4: 12-69353255-T-C
MyVariant Identifiers: chr12:g.69747035T>C (hg19) chr12:g.69353255T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.69353255T>C , CM000674.2:g.69353255T>C GRCh38
NC_000012.11:g.69747035T>C , CM000674.1:g.69747035T>C GRCh37
NC_000012.10:g.68033302T>C NCBI36
NG_008195.1:g.9902T>C , LRG_768:g.9902T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261267.7:c.*36T>C MANE Select ENSP00000261267.2:n.*36T>C
ENST00000261267.6:c.*36T>C ENSP00000261267.2:n.*36T>C
ENST00000549690.1:c.404T>C ENSP00000449898.1:p.Leu135Pro
NM_000239.2:c.*36T>C , LRG_768t1:c.*36T>C NP_000230.1:n.*36T>C
NM_000239.3:c.*36T>C MANE Select NP_000230.1:n.*36T>C
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