Canonical Allele Identifier: CA2993205
Community Standard Title: NM_014991.6(WDFY3):c.4739G>A (p.Ser1580Asn)
Gene: WDFY3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.84774835C>T , CM000666.2:g.84774835C>T GRCh38
NC_000004.11:g.85695988C>T , CM000666.1:g.85695988C>T GRCh37
NC_000004.10:g.85915012C>T NCBI36
NG_046917.1:g.196557G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014991.6:c.4739G>A MANE Select NP_055806.2:p.Ser1580Asn
ENST00000295888.9:c.4739G>A MANE Select ENSP00000295888.4:p.Ser1580Asn
NM_014991.4:c.4739G>A NP_055806.2:p.Ser1580Asn
NM_014991.5:c.4739G>A NP_055806.2:p.Ser1580Asn
ENST00000295888.8:c.4739G>A ENSP00000295888.4:p.Ser1580Asn
ENST00000514711.2:c.3275G>A ENSP00000424987.2:p.Ser1092Asn
XM_005262858.3:c.4793G>A XP_005262915.1:p.Ser1598Asn
XM_005262858.5:c.4793G>A XP_005262915.1:p.Ser1598Asn
XM_011531757.1:c.4793G>A XP_011530059.1:p.Ser1598Asn
XM_011531757.3:c.4793G>A XP_011530059.1:p.Ser1598Asn
XM_011531758.1:c.4793G>A XP_011530060.1:p.Ser1598Asn
XM_011531759.1:c.4793G>A XP_011530061.1:p.Ser1598Asn
XM_011531759.2:c.4793G>A XP_011530061.1:p.Ser1598Asn
XM_011531760.1:c.4793G>A XP_011530062.1:p.Ser1598Asn
XM_011531760.3:c.4793G>A XP_011530062.1:p.Ser1598Asn
XM_011531761.1:c.4793G>A XP_011530063.1:p.Ser1598Asn
XM_011531761.3:c.4793G>A XP_011530063.1:p.Ser1598Asn
XM_011531762.1:c.4793G>A XP_011530064.1:p.Ser1598Asn
XM_011531762.3:c.4793G>A XP_011530064.1:p.Ser1598Asn
XM_011531763.1:c.4739G>A XP_011530065.1:p.Ser1580Asn
XM_011531763.3:c.4739G>A XP_011530065.1:p.Ser1580Asn
XM_011531764.1:c.4709G>A XP_011530066.1:p.Ser1570Asn
XM_011531764.3:c.4709G>A XP_011530066.1:p.Ser1570Asn
XM_011531765.1:c.4739G>A XP_011530067.1:p.Ser1580Asn
XM_011531765.3:c.4739G>A XP_011530067.1:p.Ser1580Asn
XM_011531766.1:c.4793G>A XP_011530068.1:p.Ser1598Asn
XM_011531766.2:c.4793G>A XP_011530068.1:p.Ser1598Asn
XM_011531767.1:c.4793G>A XP_011530069.1:p.Ser1598Asn
XM_011531767.2:c.4793G>A XP_011530069.1:p.Ser1598Asn
XM_017007906.2:c.4793G>A XP_016863395.1:p.Ser1598Asn
XM_017007907.2:c.4793G>A XP_016863396.1:p.Ser1598Asn
XM_017007908.2:c.4793G>A XP_016863397.1:p.Ser1598Asn
XM_017007909.1:c.2759G>A XP_016863398.1:p.Ser920Asn