Canonical Allele Identifier: CA238507311
Gene: LYZ HGNC NCBI

Linked Data

dbSNP Id: rs188895813
gnomAD v2: 12-69747429-C-T
gnomAD v3: 12-69353649-C-T
gnomAD v4: 12-69353649-C-T
MyVariant Identifiers: chr12:g.69747429C>T (hg19) chr12:g.69353649C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.69353649C>T , CM000674.2:g.69353649C>T GRCh38
NC_000012.11:g.69747429C>T , CM000674.1:g.69747429C>T GRCh37
NC_000012.10:g.68033696C>T NCBI36
NG_008195.1:g.10296C>T , LRG_768:g.10296C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261267.7:c.*430C>T MANE Select ENSP00000261267.2:n.*430C>T
ENST00000261267.6:c.*430C>T ENSP00000261267.2:n.*430C>T
NM_000239.2:c.*430C>T , LRG_768t1:c.*430C>T NP_000230.1:n.*430C>T
NM_000239.3:c.*430C>T MANE Select NP_000230.1:n.*430C>T
Search 100 bp 5'
Search 100 bp 3'