Canonical Allele Identifier: CA691365169
Gene: LYZ HGNC NCBI

Linked Data

dbSNP Id: rs12301953
gnomAD v4: 12-69353674-G-C
MyVariant Identifiers: chr12:g.69747454G>C (hg19) chr12:g.69353674G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.69353674G>C , CM000674.2:g.69353674G>C GRCh38
NC_000012.11:g.69747454G>C , CM000674.1:g.69747454G>C GRCh37
NC_000012.10:g.68033721G>C NCBI36
NG_008195.1:g.10321G>C , LRG_768:g.10321G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261267.7:c.*455G>C MANE Select ENSP00000261267.2:n.*455G>C
ENST00000261267.6:c.*455G>C ENSP00000261267.2:n.*455G>C
NM_000239.2:c.*455G>C , LRG_768t1:c.*455G>C NP_000230.1:n.*455G>C
NM_000239.3:c.*455G>C MANE Select NP_000230.1:n.*455G>C
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