Canonical Allele Identifier: CA238507063

Gene: LYZ

Linked Data

• dbSNP Id: rs893776933
• gnomAD v2: 12-69747087-C-T
• gnomAD v3: 12-69353307-C-T
• gnomAD v4: 12-69353307-C-T
• MyVariant Identifiers: chr12:g.69747087C>T (hg19) ; chr12:g.69353307C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.69353307C>T , CM000674.2:g.69353307C>T	GRCh38
NC_000012.11:g.69747087C>T , CM000674.1:g.69747087C>T	GRCh37
NC_000012.10:g.68033354C>T	NCBI36
NG_008195.1:g.9954C>T , LRG_768:g.9954C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261267.7:c.*88C>T MANE Select	ENSP00000261267.2:n.*88C>T
ENST00000261267.6:c.*88C>T	ENSP00000261267.2:n.*88C>T
ENST00000549690.1:c.*42C>T	ENSP00000449898.1:n.*42C>T
NM_000239.2:c.*88C>T , LRG_768t1:c.*88C>T	NP_000230.1:n.*88C>T
NM_000239.3:c.*88C>T MANE Select	NP_000230.1:n.*88C>T