Canonical Allele Identifier: CA238507300
Gene: LYZ HGNC NCBI

Linked Data

ClinVar Variation Id: 881800
ClinVar RCV Id: RCV001111058
dbSNP Id: rs980457915
gnomAD v2: 12-69747425-C-T
gnomAD v3: 12-69353645-C-T
gnomAD v4: 12-69353645-C-T
MyVariant Identifiers: chr12:g.69747425C>T (hg19) chr12:g.69353645C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.69353645C>T , CM000674.2:g.69353645C>T GRCh38
NC_000012.11:g.69747425C>T , CM000674.1:g.69747425C>T GRCh37
NC_000012.10:g.68033692C>T NCBI36
NG_008195.1:g.10292C>T , LRG_768:g.10292C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261267.7:c.*426C>T MANE Select ENSP00000261267.2:n.*426C>T
ENST00000261267.6:c.*426C>T ENSP00000261267.2:n.*426C>T
NM_000239.2:c.*426C>T , LRG_768t1:c.*426C>T NP_000230.1:n.*426C>T
NM_000239.3:c.*426C>T MANE Select NP_000230.1:n.*426C>T
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