Canonical Allele Identifier: CA1932021656
Gene: TWNK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100989744T= , CM000672.2:g.100989744T= GRCh38
NC_000010.10:g.102749501T= , CM000672.1:g.102749501T= GRCh37
NC_000010.9:g.102739491T= NCBI36
NG_011646.1:g.2772A=
NG_012624.1:g.7209T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000311916.8:c.1344T= MANE Select ENSP00000309595.2:p.Asn448=
ENST00000370228.2:c.1344T= ENSP00000359248.1:p.Asn448=
ENST00000643860.1:c.1344T= ENSP00000494389.1:p.Asn448=
ENST00000646226.1:n.159T=
ENST00000647109.1:c.34-31T=
ENST00000650396.1:c.305T=
ENST00000311916.6:c.1344T= ENSP00000309595.2:p.Asn448=
ENST00000370228.1:c.1344T= ENSP00000359248.1:p.Asn448=
ENST00000459764.1:n.187T=
ENST00000473656.5:n.165T=
ENST00000476766.5:n.230T=
NM_001163812.1:c.1344T= NP_001157284.1:p.Asn448=
NM_001163813.1:c.-19T= NP_001157285.1:n.-19T=
NM_001163814.1:c.-19T= NP_001157286.1:n.-19T=
NM_021830.4:c.1344T= NP_068602.2:p.Asn448=
XM_011539974.1:c.-19T= XP_011538276.1:n.-19T=
XM_011539975.1:c.-19T= XP_011538277.1:n.-19T=
XR_945788.1:n.2115T=
XM_011539975.2:c.-19T= XP_011538277.1:n.-19T=
XM_017016437.1:c.-19T= XP_016871926.1:n.-19T=
XR_001747142.1:n.1518T=
XR_001747144.1:n.1456T=
XR_002956991.1:n.1456T=
XR_945788.2:n.1456T=
NM_021830.5:c.1344T= MANE Select NP_068602.2:p.Asn448=
NM_001163812.2:c.1344T= NP_001157284.1:p.Asn448=
NM_001163813.2:c.-19T= NP_001157285.1:n.-19T=
NM_001163814.2:c.-19T= NP_001157286.1:n.-19T=
NM_001368275.1:c.-19T= NP_001355204.1:n.-19T=
NR_160738.1:n.2012T=
NR_160739.1:n.172T=
NR_160740.1:n.1950T=
NR_160741.1:n.1950T=
NR_160742.1:n.1950T=