Canonical Allele Identifier: CA1932023075
Gene: TWNK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100990550G= , CM000672.2:g.100990550G= GRCh38
NC_000010.10:g.102750307G= , CM000672.1:g.102750307G= GRCh37
NC_000010.9:g.102740297G= NCBI36
NG_011646.1:g.1966C=
NG_012624.1:g.8015G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000311916.8:c.1592+7G= MANE Select ENSP00000309595.2:n.1592+7G=
ENST00000370228.2:c.1592+7G= ENSP00000359248.1:n.1592+7G=
ENST00000643860.1:c.*3G= ENSP00000494389.1:n.*3G=
ENST00000646226.1:n.407+7G=
ENST00000647109.1:c.251+7G=
ENST00000650396.1:c.560G=
ENST00000311916.6:c.1592+7G= ENSP00000309595.2:n.1592+7G=
ENST00000370228.1:c.1592+7G= ENSP00000359248.1:n.1592+7G=
ENST00000473656.5:n.413+7G=
ENST00000476766.5:n.478+7G=
NM_001163812.1:c.1592+7G= NP_001157284.1:n.1592+7G=
NM_001163813.1:c.230+7G= NP_001157285.1:n.230+7G=
NM_001163814.1:c.230+7G= NP_001157286.1:n.230+7G=
NM_021830.4:c.1592+7G= NP_068602.2:n.1592+7G=
XM_011539974.1:c.230+7G= XP_011538276.1:n.230+7G=
XM_011539975.1:c.230+7G= XP_011538277.1:n.230+7G=
XR_945788.1:n.2363+7G=
XM_011539975.2:c.230+7G= XP_011538277.1:n.230+7G=
XM_017016437.1:c.230+7G= XP_016871926.1:n.230+7G=
XR_001747142.1:n.1773G=
XR_001747144.1:n.1711G=
XR_002956991.1:n.1704+7G=
XR_945788.2:n.1704+7G=
NM_021830.5:c.1592+7G= MANE Select NP_068602.2:n.1592+7G=
NM_001163812.2:c.1592+7G= NP_001157284.1:n.1592+7G=
NM_001163813.2:c.230+7G= NP_001157285.1:n.230+7G=
NM_001163814.2:c.230+7G= NP_001157286.1:n.230+7G=
NM_001368275.1:c.230+7G= NP_001355204.1:n.230+7G=
NR_160738.1:n.2267G=
NR_160739.1:n.427G=
NR_160740.1:n.2198+7G=
NR_160741.1:n.2198+7G=
NR_160742.1:n.2205G=