Canonical Allele Identifier: CA606184012
Gene: LYZ HGNC NCBI

Linked Data

dbSNP Id: rs1330005682
gnomAD v2: 12-69747426-G-A
gnomAD v3: 12-69353646-G-A
gnomAD v4: 12-69353646-G-A
MyVariant Identifiers: chr12:g.69747426G>A (hg19) chr12:g.69353646G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.69353646G>A , CM000674.2:g.69353646G>A GRCh38
NC_000012.11:g.69747426G>A , CM000674.1:g.69747426G>A GRCh37
NC_000012.10:g.68033693G>A NCBI36
NG_008195.1:g.10293G>A , LRG_768:g.10293G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261267.7:c.*427G>A MANE Select ENSP00000261267.2:n.*427G>A
ENST00000261267.6:c.*427G>A ENSP00000261267.2:n.*427G>A
NM_000239.2:c.*427G>A , LRG_768t1:c.*427G>A NP_000230.1:n.*427G>A
NM_000239.3:c.*427G>A MANE Select NP_000230.1:n.*427G>A
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