Canonical Allele Identifier: CA1932019305
Gene: TWNK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100988878A= , CM000672.2:g.100988878A= GRCh38
NC_000010.10:g.102748635A= , CM000672.1:g.102748635A= GRCh37
NC_000010.9:g.102738625A= NCBI36
NG_011646.1:g.3638T=
NG_012624.1:g.6343A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000311916.8:c.668A= MANE Select ENSP00000309595.2:p.Glu223=
ENST00000370228.2:c.668A= ENSP00000359248.1:p.Glu223=
ENST00000643860.1:c.668A= ENSP00000494389.1:p.Glu223=
ENST00000646226.1:n.59-766A=
ENST00000311916.6:c.668A= ENSP00000309595.2:p.Glu223=
ENST00000370228.1:c.668A= ENSP00000359248.1:p.Glu223=
ENST00000459764.1:n.87-766A=
ENST00000473656.5:n.65-766A=
ENST00000476766.5:n.192-828A=
NM_001163812.1:c.668A= NP_001157284.1:p.Glu223=
NM_001163813.1:c.-119-766A= NP_001157285.1:n.-119-766A=
NM_001163814.1:c.-119-766A= NP_001157286.1:n.-119-766A=
NM_021830.4:c.668A= NP_068602.2:p.Glu223=
XM_011539975.1:c.-57-828A= XP_011538277.1:n.-57-828A=
XR_945788.1:n.1501A=
XM_011539975.2:c.-57-828A= XP_011538277.1:n.-57-828A=
XM_017016437.1:c.-633A= XP_016871926.1:n.-633A=
XR_001747142.1:n.842A=
XR_001747144.1:n.842A=
XR_002956991.1:n.842A=
XR_945788.2:n.842A=
NM_021830.5:c.668A= MANE Select NP_068602.2:p.Glu223=
NM_001163812.2:c.668A= NP_001157284.1:p.Glu223=
NM_001163813.2:c.-119-766A= NP_001157285.1:n.-119-766A=
NM_001163814.2:c.-119-766A= NP_001157286.1:n.-119-766A=
NM_001368275.1:c.-57-828A= NP_001355204.1:n.-57-828A=
NR_160738.1:n.1336A=
NR_160739.1:n.72-766A=
NR_160740.1:n.1336A=
NR_160741.1:n.1336A=
NR_160742.1:n.1336A=