Canonical Allele Identifier: CA2334203

Gene: LYZL4

Linked Data

• dbSNP Id: rs748502123
• ExAC: 3:42448380 A / C
• gnomAD v2: 3-42448380-A-C
• gnomAD v3: 3-42406888-A-C
• gnomAD v4: 3-42406888-A-C
• MyVariant Identifiers: chr3:g.42448380A>C (hg19) ; chr3:g.42406888A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.42406888A>C , CM000665.2:g.42406888A>C	GRCh38
NC_000003.11:g.42448380A>C , CM000665.1:g.42448380A>C	GRCh37
NC_000003.10:g.42423384A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287748.8:c.250T>G MANE Select	ENSP00000287748.3:p.Cys84Gly
ENST00000287748.7:c.250T>G	ENSP00000287748.3:p.Cys84Gly
ENST00000441172.1:c.250T>G	ENSP00000387897.1:p.Cys84Gly
ENST00000470991.1:n.280T>G
NM_001304386.1:c.250T>G	NP_001291315.1:p.Cys84Gly
NM_144634.3:c.250T>G	NP_653235.1:p.Cys84Gly
XM_011533355.1:c.250T>G	XP_011531657.1:p.Cys84Gly
XM_011533355.3:c.250T>G	XP_011531657.1:p.Cys84Gly
XM_017005706.1:c.250T>G	XP_016861195.1:p.Cys84Gly
XM_024453345.1:c.250T>G	XP_024309113.1:p.Cys84Gly
NM_144634.4:c.250T>G MANE Select	NP_653235.1:p.Cys84Gly
NM_001304386.2:c.250T>G	NP_001291315.1:p.Cys84Gly