Canonical Allele Identifier: CA2992205
Community Standard Title: NM_014991.6(WDFY3):c.9326C>T (p.Thr3109Ile)
Gene: WDFY3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.84690543G>A , CM000666.2:g.84690543G>A GRCh38
NC_000004.11:g.85611696G>A , CM000666.1:g.85611696G>A GRCh37
NC_000004.10:g.85830720G>A NCBI36
NG_046917.1:g.280849C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014991.6:c.9326C>T MANE Select NP_055806.2:p.Thr3109Ile
ENST00000295888.9:c.9326C>T MANE Select ENSP00000295888.4:p.Thr3109Ile
NM_014991.4:c.9326C>T NP_055806.2:p.Thr3109Ile
NM_014991.5:c.9326C>T NP_055806.2:p.Thr3109Ile
ENST00000295888.8:c.9326C>T ENSP00000295888.4:p.Thr3109Ile
ENST00000514711.2:c.7766C>T ENSP00000424987.2:p.Thr2589Ile
XM_005262858.3:c.9380C>T XP_005262915.1:p.Thr3127Ile
XM_005262858.5:c.9380C>T XP_005262915.1:p.Thr3127Ile
XM_011531757.1:c.9380C>T XP_011530059.1:p.Thr3127Ile
XM_011531757.3:c.9380C>T XP_011530059.1:p.Thr3127Ile
XM_011531758.1:c.9380C>T XP_011530060.1:p.Thr3127Ile
XM_011531759.1:c.9380C>T XP_011530061.1:p.Thr3127Ile
XM_011531759.2:c.9380C>T XP_011530061.1:p.Thr3127Ile
XM_011531760.1:c.9380C>T XP_011530062.1:p.Thr3127Ile
XM_011531760.3:c.9380C>T XP_011530062.1:p.Thr3127Ile
XM_011531761.1:c.9335C>T XP_011530063.1:p.Thr3112Ile
XM_011531761.3:c.9335C>T XP_011530063.1:p.Thr3112Ile
XM_011531762.1:c.9329C>T XP_011530064.1:p.Thr3110Ile
XM_011531762.3:c.9329C>T XP_011530064.1:p.Thr3110Ile
XM_011531763.1:c.9326C>T XP_011530065.1:p.Thr3109Ile
XM_011531763.3:c.9326C>T XP_011530065.1:p.Thr3109Ile
XM_011531764.1:c.9296C>T XP_011530066.1:p.Thr3099Ile
XM_011531764.3:c.9296C>T XP_011530066.1:p.Thr3099Ile
XM_011531765.1:c.9275C>T XP_011530067.1:p.Thr3092Ile
XM_011531765.3:c.9275C>T XP_011530067.1:p.Thr3092Ile
XM_017007906.2:c.9380C>T XP_016863395.1:p.Thr3127Ile
XM_017007907.2:c.9380C>T XP_016863396.1:p.Thr3127Ile
XM_017007908.2:c.9380C>T XP_016863397.1:p.Thr3127Ile
XM_017007909.1:c.7346C>T XP_016863398.1:p.Thr2449Ile