Canonical Allele Identifier: CA1932019639
Gene: TWNK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100988998C= , CM000672.2:g.100988998C= GRCh38
NC_000010.10:g.102748755C= , CM000672.1:g.102748755C= GRCh37
NC_000010.9:g.102738745C= NCBI36
NG_011646.1:g.3518G=
NG_012624.1:g.6463C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000311916.8:c.788C= MANE Select ENSP00000309595.2:p.Thr263=
ENST00000370228.2:c.788C= ENSP00000359248.1:p.Thr263=
ENST00000643860.1:c.788C= ENSP00000494389.1:p.Thr263=
ENST00000646226.1:n.59-646C=
ENST00000311916.6:c.788C= ENSP00000309595.2:p.Thr263=
ENST00000370228.1:c.788C= ENSP00000359248.1:p.Thr263=
ENST00000459764.1:n.87-646C=
ENST00000473656.5:n.65-646C=
ENST00000476766.5:n.192-708C=
NM_001163812.1:c.788C= NP_001157284.1:p.Thr263=
NM_001163813.1:c.-119-646C= NP_001157285.1:n.-119-646C=
NM_001163814.1:c.-119-646C= NP_001157286.1:n.-119-646C=
NM_021830.4:c.788C= NP_068602.2:p.Thr263=
XM_011539975.1:c.-57-708C= XP_011538277.1:n.-57-708C=
XR_945788.1:n.1621C=
XM_011539975.2:c.-57-708C= XP_011538277.1:n.-57-708C=
XM_017016437.1:c.-513C= XP_016871926.1:n.-513C=
XR_001747142.1:n.962C=
XR_001747144.1:n.962C=
XR_002956991.1:n.962C=
XR_945788.2:n.962C=
NM_021830.5:c.788C= MANE Select NP_068602.2:p.Thr263=
NM_001163812.2:c.788C= NP_001157284.1:p.Thr263=
NM_001163813.2:c.-119-646C= NP_001157285.1:n.-119-646C=
NM_001163814.2:c.-119-646C= NP_001157286.1:n.-119-646C=
NM_001368275.1:c.-57-708C= NP_001355204.1:n.-57-708C=
NR_160738.1:n.1456C=
NR_160739.1:n.72-646C=
NR_160740.1:n.1456C=
NR_160741.1:n.1456C=
NR_160742.1:n.1456C=