Canonical Allele Identifier: CA376403390
Community Standard Title: NM_016628.5(WAC):c.1237G>A (p.Ala413Thr)
Gene: WAC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.28610770G>A , CM000672.2:g.28610770G>A GRCh38
NC_000010.10:g.28899699G>A , CM000672.1:g.28899699G>A GRCh37
NC_000010.9:g.28939705G>A NCBI36
NG_046603.1:g.83183G>A

Transcript Alleles

HGVS Amino-acid Change
NM_016628.5:c.1237G>A MANE Select NP_057712.2:p.Ala413Thr
ENST00000354911.9:c.1237G>A MANE Select ENSP00000346986.4:p.Ala413Thr
NM_016628.4:c.1237G>A NP_057712.2:p.Ala413Thr
NM_100264.2:c.1102G>A NP_567822.1:p.Ala368Thr
NM_100264.3:c.1102G>A NP_567822.1:p.Ala368Thr
NM_100486.3:c.928G>A NP_567823.1:p.Ala310Thr
NM_100486.4:c.928G>A NP_567823.1:p.Ala310Thr
ENST00000345541.6:n.1026G>A
ENST00000347934.8:c.928G>A ENSP00000311106.4:p.Ala310Thr
ENST00000354911.8:c.1237G>A ENSP00000346986.4:p.Ala413Thr
ENST00000375646.5:c.781G>A ENSP00000364797.1:p.Ala261Thr
ENST00000375664.8:c.1102G>A ENSP00000364816.3:p.Ala368Thr
ENST00000414108.6:c.1102G>A ENSP00000415645.2:p.Ala368Thr
ENST00000420266.6:c.*1151G>A ENSP00000404758.2:n.*1151G>A
ENST00000439676.5:c.1102G>A ENSP00000415727.1:p.Ala368Thr
ENST00000442148.6:c.1102G>A ENSP00000400848.2:p.Ala368Thr
ENST00000495268.2:n.158G>A
ENST00000495268.3:c.565G>A ENSP00000514964.1:p.Ala189Thr
ENST00000628285.2:c.*663G>A ENSP00000486994.1:n.*663G>A
ENST00000628285.3:c.*663G>A ENSP00000486994.2:n.*663G>A
ENST00000679398.1:c.1102G>A ENSP00000506624.1:p.Ala368Thr
ENST00000679428.1:c.1102G>A ENSP00000506445.1:p.Ala368Thr
ENST00000679570.1:c.*1232G>A ENSP00000506705.1:n.*1232G>A
ENST00000680735.1:c.1108G>A ENSP00000505513.1:p.Ala370Thr
ENST00000681112.1:c.*1090G>A ENSP00000505444.1:n.*1090G>A
ENST00000700325.1:c.1225G>A ENSP00000514952.1:p.Ala409Thr
ENST00000706612.1:c.1225G>A ENSP00000516469.1:p.Ala409Thr
XM_005252454.2:c.1255G>A XP_005252511.1:p.Ala419Thr
XM_011519491.1:c.1102G>A XP_011517793.1:p.Ala368Thr
XM_017016315.2:c.1102G>A XP_016871804.1:p.Ala368Thr
XM_017016317.2:c.793G>A XP_016871806.1:p.Ala265Thr
XM_017016318.2:c.793G>A XP_016871807.1:p.Ala265Thr
XM_024448036.1:c.1102G>A XP_024303804.1:p.Ala368Thr
XR_001747110.1:n.1192G>A
XR_930491.1:n.1157G>A
XR_930491.2:n.1157G>A