Canonical Allele Identifier: CA123909
Gene: LYZ HGNC NCBI

Linked Data

ClinVar Variation Id: 14377
ClinVar RCV Id: RCV000015453
dbSNP Id: rs121913549

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.69350194T>A , CM000674.2:g.69350194T>A GRCh38
NC_000012.11:g.69743974T>A , CM000674.1:g.69743974T>A GRCh37
NC_000012.10:g.68030241T>A NCBI36
NG_008195.1:g.6841T>A , LRG_768:g.6841T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261267.7:c.223T>A MANE Select ENSP00000261267.2:p.Phe75Ile
ENST00000261267.6:c.223T>A ENSP00000261267.2:p.Phe75Ile
ENST00000548839.1:c.223T>A ENSP00000449969.1:p.Phe75Ile
ENST00000549690.1:c.223T>A ENSP00000449898.1:p.Phe75Ile
NM_000239.2:c.223T>A , LRG_768t1:c.223T>A NP_000230.1:p.Phe75Ile
NM_000239.3:c.223T>A MANE Select NP_000230.1:p.Phe75Ile