Canonical Allele Identifier: CA5454926
Community Standard Title: NM_016628.5(WAC):c.971C>T (p.Thr324Met)
Gene: WAC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.28608237C>T , CM000672.2:g.28608237C>T GRCh38
NC_000010.10:g.28897166C>T , CM000672.1:g.28897166C>T GRCh37
NC_000010.9:g.28937172C>T NCBI36
NG_046603.1:g.80650C>T

Transcript Alleles

HGVS Amino-acid Change
NM_016628.5:c.971C>T MANE Select NP_057712.2:p.Thr324Met
ENST00000354911.9:c.971C>T MANE Select ENSP00000346986.4:p.Thr324Met
NM_016628.4:c.971C>T NP_057712.2:p.Thr324Met
NM_100264.2:c.836C>T NP_567822.1:p.Thr279Met
NM_100264.3:c.836C>T NP_567822.1:p.Thr279Met
NM_100486.3:c.662C>T NP_567823.1:p.Thr221Met
NM_100486.4:c.662C>T NP_567823.1:p.Thr221Met
ENST00000345541.6:n.769C>T
ENST00000347934.8:c.662C>T ENSP00000311106.4:p.Thr221Met
ENST00000354911.8:c.971C>T ENSP00000346986.4:p.Thr324Met
ENST00000375646.5:c.527C>T ENSP00000364797.1:p.Thr176Met
ENST00000375664.8:c.836C>T ENSP00000364816.3:p.Thr279Met
ENST00000414108.6:c.836C>T ENSP00000415645.2:p.Thr279Met
ENST00000420266.6:c.*885C>T ENSP00000404758.2:n.*885C>T
ENST00000424454.5:c.*979C>T ENSP00000404125.2:n.*979C>T
ENST00000428935.5:c.*397C>T ENSP00000399706.2:n.*397C>T
ENST00000428935.6:c.874C>T ENSP00000399706.3:p.Arg292Cys
ENST00000439676.5:c.836C>T ENSP00000415727.1:p.Thr279Met
ENST00000442148.6:c.836C>T ENSP00000400848.2:p.Thr279Met
ENST00000476046.1:n.167C>T
ENST00000495268.3:c.299C>T ENSP00000514964.1:p.Thr100Met
ENST00000628285.2:c.*397C>T ENSP00000486994.1:n.*397C>T
ENST00000628285.3:c.*397C>T ENSP00000486994.2:n.*397C>T
ENST00000679398.1:c.836C>T ENSP00000506624.1:p.Thr279Met
ENST00000679428.1:c.836C>T ENSP00000506445.1:p.Thr279Met
ENST00000679570.1:c.*966C>T ENSP00000506705.1:n.*966C>T
ENST00000680735.1:c.842C>T ENSP00000505513.1:p.Thr281Met
ENST00000681112.1:c.*824C>T ENSP00000505444.1:n.*824C>T
ENST00000700325.1:c.959C>T ENSP00000514952.1:p.Thr320Met
ENST00000706612.1:c.959C>T ENSP00000516469.1:p.Thr320Met
XM_005252454.2:c.989C>T XP_005252511.1:p.Thr330Met
XM_011519491.1:c.836C>T XP_011517793.1:p.Thr279Met
XM_017016315.2:c.836C>T XP_016871804.1:p.Thr279Met
XM_017016317.2:c.527C>T XP_016871806.1:p.Thr176Met
XM_017016318.2:c.527C>T XP_016871807.1:p.Thr176Met
XM_024448036.1:c.836C>T XP_024303804.1:p.Thr279Met
XR_001747110.1:n.926C>T
XR_930491.1:n.891C>T
XR_930491.2:n.891C>T