Canonical Allele Identifier: CA123903

Gene: LYZ

Linked Data

• ClinVar Variation Id: 14375
• ClinVar RCV Id: RCV004555834
• dbSNP Id: rs387906535
• gnomAD v3: 12-69350170-G-C
• gnomAD v4: 12-69350170-G-C
• MyVariant Identifiers: chr12:g.69743950G>C (hg19) ; chr12:g.69350170G>C (hg38)
• PubMed: PMID:8464497 ; PMID:8566845 ; PMID:10534505

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.69350170G>C , CM000674.2:g.69350170G>C	GRCh38
NC_000012.11:g.69743950G>C , CM000674.1:g.69743950G>C	GRCh37
NC_000012.10:g.68030217G>C	NCBI36
NG_008195.1:g.6817G>C , LRG_768:g.6817G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261267.7:c.199G>C MANE Select	ENSP00000261267.2:p.Asp67His
ENST00000261267.6:c.199G>C	ENSP00000261267.2:p.Asp67His
ENST00000548839.1:c.199G>C	ENSP00000449969.1:p.Asp67His
ENST00000549690.1:c.199G>C	ENSP00000449898.1:p.Asp67His
NM_000239.2:c.199G>C , LRG_768t1:c.199G>C	NP_000230.1:p.Asp67His
NM_000239.3:c.199G>C MANE Select	NP_000230.1:p.Asp67His