Canonical Allele Identifier: CA1932018208
Gene: TWNK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100988447G= , CM000672.2:g.100988447G= GRCh38
NC_000010.10:g.102748204G= , CM000672.1:g.102748204G= GRCh37
NC_000010.9:g.102738194G= NCBI36
NG_011646.1:g.4069C=
NG_012624.1:g.5912G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000311916.8:c.237G= MANE Select ENSP00000309595.2:p.Arg79=
ENST00000370228.2:c.237G= ENSP00000359248.1:p.Arg79=
ENST00000643860.1:c.237G= ENSP00000494389.1:p.Arg79=
ENST00000646226.1:n.58+834G=
ENST00000311916.6:c.237G= ENSP00000309595.2:p.Arg79=
ENST00000370228.1:c.237G= ENSP00000359248.1:p.Arg79=
ENST00000459764.1:n.86+567G=
ENST00000473656.5:n.64+834G=
ENST00000476766.5:n.191+890G=
NM_001163812.1:c.237G= NP_001157284.1:p.Arg79=
NM_001163813.1:c.-120+834G= NP_001157285.1:n.-120+834G=
NM_001163814.1:c.-120+834G= NP_001157286.1:n.-120+834G=
NM_021830.4:c.237G= NP_068602.2:p.Arg79=
XM_011539975.1:c.-58+834G= XP_011538277.1:n.-58+834G=
XR_945788.1:n.1070G=
XM_011539975.2:c.-58+834G= XP_011538277.1:n.-58+834G=
XM_017016437.1:c.-1064G= XP_016871926.1:n.-1064G=
XR_001747142.1:n.411G=
XR_001747144.1:n.411G=
XR_002956991.1:n.411G=
XR_945788.2:n.411G=
NM_021830.5:c.237G= MANE Select NP_068602.2:p.Arg79=
NM_001163812.2:c.237G= NP_001157284.1:p.Arg79=
NM_001163813.2:c.-120+834G= NP_001157285.1:n.-120+834G=
NM_001163814.2:c.-120+834G= NP_001157286.1:n.-120+834G=
NM_001368275.1:c.-58+834G= NP_001355204.1:n.-58+834G=
NR_160738.1:n.905G=
NR_160739.1:n.71+834G=
NR_160740.1:n.905G=
NR_160741.1:n.905G=
NR_160742.1:n.905G=