Canonical Allele Identifier: CA1932023295
Gene: TWNK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100990644A= , CM000672.2:g.100990644A= GRCh38
NC_000010.10:g.102750401A= , CM000672.1:g.102750401A= GRCh37
NC_000010.9:g.102740391A= NCBI36
NG_011646.1:g.1872T=
NG_012624.1:g.8109A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000311916.8:c.1592+101A= MANE Select ENSP00000309595.2:n.1592+101A=
ENST00000370228.2:c.1592+101A= ENSP00000359248.1:n.1592+101A=
ENST00000643860.1:c.*97A= ENSP00000494389.1:n.*97A=
ENST00000646226.1:n.407+101A=
ENST00000647109.1:c.251+101A=
ENST00000650396.1:c.654A=
ENST00000311916.6:c.1592+101A= ENSP00000309595.2:n.1592+101A=
ENST00000370228.1:c.1592+101A= ENSP00000359248.1:n.1592+101A=
ENST00000473656.5:n.413+101A=
ENST00000476766.5:n.478+101A=
NM_001163812.1:c.1592+101A= NP_001157284.1:n.1592+101A=
NM_001163813.1:c.230+101A= NP_001157285.1:n.230+101A=
NM_001163814.1:c.230+101A= NP_001157286.1:n.230+101A=
NM_021830.4:c.1592+101A= NP_068602.2:n.1592+101A=
XM_011539974.1:c.230+101A= XP_011538276.1:n.230+101A=
XM_011539975.1:c.230+101A= XP_011538277.1:n.230+101A=
XR_945788.1:n.2363+101A=
XM_011539975.2:c.230+101A= XP_011538277.1:n.230+101A=
XM_017016437.1:c.230+101A= XP_016871926.1:n.230+101A=
XR_001747142.1:n.1867A=
XR_001747144.1:n.1805A=
XR_002956991.1:n.1704+101A=
XR_945788.2:n.1704+101A=
NM_021830.5:c.1592+101A= MANE Select NP_068602.2:n.1592+101A=
NM_001163812.2:c.1592+101A= NP_001157284.1:n.1592+101A=
NM_001163813.2:c.230+101A= NP_001157285.1:n.230+101A=
NM_001163814.2:c.230+101A= NP_001157286.1:n.230+101A=
NM_001368275.1:c.230+101A= NP_001355204.1:n.230+101A=
NR_160738.1:n.2361A=
NR_160739.1:n.521A=
NR_160740.1:n.2198+101A=
NR_160741.1:n.2198+101A=
NR_160742.1:n.2299A=