Canonical Allele Identifier: CA5454701

Gene: WAC

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.28535623G>A , CM000672.2:g.28535623G>A	GRCh38
NC_000010.10:g.28824552G>A , CM000672.1:g.28824552G>A	GRCh37
NC_000010.9:g.28864558G>A	NCBI36
NG_046603.1:g.8036G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_016628.5:c.140G>A MANE Select	NP_057712.2:p.Arg47Gln
ENST00000354911.9:c.140G>A MANE Select	ENSP00000346986.4:p.Arg47Gln
NM_016628.4:c.140G>A	NP_057712.2:p.Arg47Gln
NM_100264.2:c.5G>A	NP_567822.1:p.Arg2Gln
NM_100264.3:c.5G>A	NP_567822.1:p.Arg2Gln
NM_100486.3:c.140G>A	NP_567823.1:p.Arg47Gln
NM_100486.4:c.140G>A	NP_567823.1:p.Arg47Gln
ENST00000347934.8:c.140G>A	ENSP00000311106.4:p.Arg47Gln
ENST00000354911.8:c.140G>A	ENSP00000346986.4:p.Arg47Gln
ENST00000375646.5:c.5G>A	ENSP00000364797.1:p.Arg2Gln
ENST00000375664.8:c.5G>A	ENSP00000364816.3:p.Arg2Gln
ENST00000414108.5:c.5G>A	ENSP00000415645.1:p.Arg2Gln
ENST00000414108.6:c.5G>A	ENSP00000415645.2:p.Arg2Gln
ENST00000420266.5:c.5G>A	ENSP00000404758.1:p.Arg2Gln
ENST00000420266.6:c.*54G>A	ENSP00000404758.2:n.*54G>A
ENST00000424454.5:c.*148G>A	ENSP00000404125.2:n.*148G>A
ENST00000428935.5:c.13G>A	ENSP00000399706.2:p.Glu5Lys
ENST00000428935.6:c.5G>A	ENSP00000399706.3:p.Arg2Gln
ENST00000439676.5:c.5G>A	ENSP00000415727.1:p.Arg2Gln
ENST00000442148.5:c.5G>A	ENSP00000400848.1:p.Arg2Gln
ENST00000442148.6:c.5G>A	ENSP00000400848.2:p.Arg2Gln
ENST00000448193.5:c.5G>A	ENSP00000395008.1:p.Arg2Gln
ENST00000526722.1:c.5G>A	ENSP00000434903.1:p.Arg2Gln
ENST00000528491.5:n.331G>A
ENST00000530865.5:n.123G>A
ENST00000532233.5:n.328G>A
ENST00000628285.2:c.13G>A	ENSP00000486994.1:p.Glu5Lys
ENST00000628285.3:c.5G>A	ENSP00000486994.2:p.Arg2Gln
ENST00000651441.1:c.5G>A	ENSP00000498450.1:p.Arg2Gln
ENST00000651598.1:c.5G>A	ENSP00000498480.1:p.Arg2Gln
ENST00000651885.1:c.158G>A	ENSP00000498678.1:p.Arg53Gln
ENST00000679398.1:c.5G>A	ENSP00000506624.1:p.Arg2Gln
ENST00000679428.1:c.5G>A	ENSP00000506445.1:p.Arg2Gln
ENST00000679570.1:c.5G>A	ENSP00000506705.1:p.Arg2Gln
ENST00000680735.1:c.13G>A	ENSP00000505513.1:p.Glu5Lys
ENST00000681112.1:c.5G>A	ENSP00000505444.1:p.Arg2Gln
ENST00000700325.1:c.5G>A	ENSP00000514952.1:p.Arg2Gln
ENST00000706612.1:c.130G>A	ENSP00000516469.1:p.Glu44Lys
XM_005252454.2:c.158G>A	XP_005252511.1:p.Arg53Gln
XM_011519491.1:c.5G>A	XP_011517793.1:p.Arg2Gln
XM_017016315.2:c.5G>A	XP_016871804.1:p.Arg2Gln
XM_017016317.2:c.5G>A	XP_016871806.1:p.Arg2Gln
XM_017016318.2:c.5G>A	XP_016871807.1:p.Arg2Gln
XM_024448036.1:c.5G>A	XP_024303804.1:p.Arg2Gln
XR_001747110.1:n.95G>A
XR_930491.1:n.60G>A
XR_930491.2:n.60G>A