Canonical Allele Identifier: CA5653057
Gene: TWNK HGNC NCBI

Linked Data

ClinVar Variation Id: 281415
dbSNP Id: rs148234280

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100988594C>T , CM000672.2:g.100988594C>T GRCh38
NC_000010.10:g.102748351C>T , CM000672.1:g.102748351C>T GRCh37
NC_000010.9:g.102738341C>T NCBI36
NG_011646.1:g.3922G>A
NG_012624.1:g.6059C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311916.8:c.384C>T MANE Select ENSP00000309595.2:p.Ser128=
ENST00000370228.2:c.384C>T ENSP00000359248.1:p.Ser128=
ENST00000643860.1:c.384C>T ENSP00000494389.1:p.Ser128=
ENST00000646226.1:n.58+981C>T
ENST00000311916.6:c.384C>T ENSP00000309595.2:p.Ser128=
ENST00000370228.1:c.384C>T ENSP00000359248.1:p.Ser128=
ENST00000459764.1:n.86+714C>T
ENST00000473656.5:n.64+981C>T
ENST00000476766.5:n.191+1037C>T
NM_001163812.1:c.384C>T NP_001157284.1:p.Ser128=
NM_001163813.1:c.-120+981C>T NP_001157285.1:n.-120+981C>T
NM_001163814.1:c.-120+981C>T NP_001157286.1:n.-120+981C>T
NM_021830.4:c.384C>T NP_068602.2:p.Ser128=
XM_011539975.1:c.-58+981C>T XP_011538277.1:n.-58+981C>T
XR_945788.1:n.1217C>T
XM_011539975.2:c.-58+981C>T XP_011538277.1:n.-58+981C>T
XM_017016437.1:c.-917C>T XP_016871926.1:n.-917C>T
XR_001747142.1:n.558C>T
XR_001747144.1:n.558C>T
XR_002956991.1:n.558C>T
XR_945788.2:n.558C>T
NM_021830.5:c.384C>T MANE Select NP_068602.2:p.Ser128=
NM_001163812.2:c.384C>T NP_001157284.1:p.Ser128=
NM_001163813.2:c.-120+981C>T NP_001157285.1:n.-120+981C>T
NM_001163814.2:c.-120+981C>T NP_001157286.1:n.-120+981C>T
NM_001368275.1:c.-58+981C>T NP_001355204.1:n.-58+981C>T
NR_160738.1:n.1052C>T
NR_160739.1:n.71+981C>T
NR_160740.1:n.1052C>T
NR_160741.1:n.1052C>T
NR_160742.1:n.1052C>T