Canonical Allele Identifier: CA1932021892
Gene: TWNK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100989827A= , CM000672.2:g.100989827A= GRCh38
NC_000010.10:g.102749584A= , CM000672.1:g.102749584A= GRCh37
NC_000010.9:g.102739574A= NCBI36
NG_011646.1:g.2689T=
NG_012624.1:g.7292A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000311916.8:c.1427A= MANE Select ENSP00000309595.2:p.Asp476=
ENST00000370228.2:c.1427A= ENSP00000359248.1:p.Asp476=
ENST00000643860.1:c.1427A= ENSP00000494389.1:p.Asp476=
ENST00000646226.1:n.242A=
ENST00000647109.1:c.86A=
ENST00000650396.1:c.388A=
ENST00000311916.6:c.1427A= ENSP00000309595.2:p.Asp476=
ENST00000370228.1:c.1427A= ENSP00000359248.1:p.Asp476=
ENST00000459764.1:n.270A=
ENST00000473656.5:n.248A=
ENST00000476766.5:n.313A=
NM_001163812.1:c.1427A= NP_001157284.1:p.Asp476=
NM_001163813.1:c.65A= NP_001157285.1:p.Asp22=
NM_001163814.1:c.65A= NP_001157286.1:p.Asp22=
NM_021830.4:c.1427A= NP_068602.2:p.Asp476=
XM_011539974.1:c.65A= XP_011538276.1:p.Asp22=
XM_011539975.1:c.65A= XP_011538277.1:p.Asp22=
XR_945788.1:n.2198A=
XM_011539975.2:c.65A= XP_011538277.1:p.Asp22=
XM_017016437.1:c.65A= XP_016871926.1:p.Asp22=
XR_001747142.1:n.1601A=
XR_001747144.1:n.1539A=
XR_002956991.1:n.1539A=
XR_945788.2:n.1539A=
NM_021830.5:c.1427A= MANE Select NP_068602.2:p.Asp476=
NM_001163812.2:c.1427A= NP_001157284.1:p.Asp476=
NM_001163813.2:c.65A= NP_001157285.1:p.Asp22=
NM_001163814.2:c.65A= NP_001157286.1:p.Asp22=
NM_001368275.1:c.65A= NP_001355204.1:p.Asp22=
NR_160738.1:n.2095A=
NR_160739.1:n.255A=
NR_160740.1:n.2033A=
NR_160741.1:n.2033A=
NR_160742.1:n.2033A=