Canonical Allele Identifier: CA1932018204
Gene: TWNK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100988445C= , CM000672.2:g.100988445C= GRCh38
NC_000010.10:g.102748202C= , CM000672.1:g.102748202C= GRCh37
NC_000010.9:g.102738192C= NCBI36
NG_011646.1:g.4071G=
NG_012624.1:g.5910C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000311916.8:c.235C= MANE Select ENSP00000309595.2:p.Arg79=
ENST00000370228.2:c.235C= ENSP00000359248.1:p.Arg79=
ENST00000643860.1:c.235C= ENSP00000494389.1:p.Arg79=
ENST00000646226.1:n.58+832C=
ENST00000311916.6:c.235C= ENSP00000309595.2:p.Arg79=
ENST00000370228.1:c.235C= ENSP00000359248.1:p.Arg79=
ENST00000459764.1:n.86+565C=
ENST00000473656.5:n.64+832C=
ENST00000476766.5:n.191+888C=
NM_001163812.1:c.235C= NP_001157284.1:p.Arg79=
NM_001163813.1:c.-120+832C= NP_001157285.1:n.-120+832C=
NM_001163814.1:c.-120+832C= NP_001157286.1:n.-120+832C=
NM_021830.4:c.235C= NP_068602.2:p.Arg79=
XM_011539975.1:c.-58+832C= XP_011538277.1:n.-58+832C=
XR_945788.1:n.1068C=
XM_011539975.2:c.-58+832C= XP_011538277.1:n.-58+832C=
XM_017016437.1:c.-1066C= XP_016871926.1:n.-1066C=
XR_001747142.1:n.409C=
XR_001747144.1:n.409C=
XR_002956991.1:n.409C=
XR_945788.2:n.409C=
NM_021830.5:c.235C= MANE Select NP_068602.2:p.Arg79=
NM_001163812.2:c.235C= NP_001157284.1:p.Arg79=
NM_001163813.2:c.-120+832C= NP_001157285.1:n.-120+832C=
NM_001163814.2:c.-120+832C= NP_001157286.1:n.-120+832C=
NM_001368275.1:c.-58+832C= NP_001355204.1:n.-58+832C=
NR_160738.1:n.903C=
NR_160739.1:n.71+832C=
NR_160740.1:n.903C=
NR_160741.1:n.903C=
NR_160742.1:n.903C=